This section presents information about the death rate statistics
for the various types of Genetic Disease.
Disease | Death Rate Estimate | US deaths estimate | Statistic Used for Calculation |
| Autosomal Genetic Diseases |
N/A |
N/A |
No information
|
| X-linked Genetic Diseases |
N/A |
N/A |
No information
|
| Dominant Genetic Diseases |
N/A |
N/A |
No information
|
| Autosomal Dominant Genetic Diseases |
N/A |
N/A |
No information
|
| Autosomal dominant polycystic kidney disease |
N/A |
N/A |
540,000 Americans approximately (90% of PKD)
|
| Machado-Joseph Disease |
N/A |
N/A |
rare
|
| Marfan syndrome |
N/A |
N/A |
1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website
|
| MODY diabetes |
N/A |
N/A |
No information
|
| Otosclerosis |
N/A |
N/A |
as many as 10% of Caucasians have the condition but most do not get symptoms; about 1 in 100 cases actually lose hearing from otosclerosis
|
| X-linked Dominant Genetic Diseases |
N/A |
N/A |
No information
|
| Coffin-Lowry syndrome |
N/A |
N/A |
estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website
|
| Incontinentia Pigmenti |
N/A |
N/A |
700 - 1,000 cases of incontinentia pigmenti have been reported, Genetics Home Reference website
|
| Recessive Genetic Diseases |
N/A |
N/A |
No information
|
| Autosomal Recessive Genetic Diseases |
N/A |
N/A |
No information
|
| Alpers Syndrome |
N/A |
N/A |
rare
|
| Autosomal Recessive Polycystic Kidney Disease |
N/A |
N/A |
estimated 1 per 20,000 - 40,000 people suffer from the autosomal recessive type of polycystic kidney disease, Genetics Home Reference website
|
| Cystic Fibrosis |
approx 1 in 31,000 or 0.00% or 8,774 people in USA |
1 per 31,000 Asian American newborns suffer from cystic fibrosis in the US, genetics Home Reference website |
1 per 31,000 Asian American newborns suffer from cystic fibrosis in the US, genetics Home Reference website
|
| Sickle Cell Anemia |
approx 1 in 1,000 or 0.10% or 272,000 people in USA |
estimated 1 per 1,000 Hispanic Americans are affected by sickle cell disease in the US, Genetics Home Reference website |
estimated 1 per 1,000 Hispanic Americans are affected by sickle cell disease in the US, Genetics Home Reference website
|
| Spinal Muscular Atrophy type I |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy type II |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy type III |
N/A |
N/A |
No information
|
| Tay Sachs |
N/A |
N/A |
No information
|
| Thalassemia |
approx 1 in 272,000 or 0.00% or 1,000 people in USA |
1,000 people with Cooley's anemia (NHLBI) |
1,000 people with Cooley's anemia (NHLBI)
|
| Usher Syndrome |
N/A |
N/A |
16,000 Americans
|
| X-linked Recessive Genetic Diseases |
N/A |
N/A |
No information
|
| Becker Muscular Dystrophy |
N/A |
N/A |
No information
|
| Deuteranopia |
N/A |
N/A |
about 1% of white males
|
| Duchenne Muscular Dystrophy |
N/A |
N/A |
No information
|
| Fragile-X Syndrome |
N/A |
N/A |
approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website
|
| Hemophilia |
approx 1 in 13,600 or 0.01% or 20,000 people in USA |
20,000 people in the United States (NHLBI) |
20,000 people in the United States (NHLBI)
|
| Progressive Spinobulbar muscular atrophy |
N/A |
N/A |
No information
|
| Protanopia |
N/A |
N/A |
about 1% of white males
|
| Red-green color blindness |
N/A |
N/A |
about 10% of males
|
| Wiskott-Aldrich Syndrome |
N/A |
N/A |
No information
|
| X-Linked Agammaglobulinemia |
N/A |
N/A |
1-in-100,000
|
| Sporadic Genetic Diseases |
N/A |
N/A |
No information
|
| Germinal mosaicism |
N/A |
N/A |
No information
|
| Y-linked Genetic Diseases |
N/A |
N/A |
No information
|
| Double Dominant Genetic Disease |
N/A |
N/A |
No information
|
| Triplet Repeat Genetic Disorders |
N/A |
N/A |
No information
|
| Adrenoleukodystrophy |
N/A |
N/A |
1 per 20,000 people suffer from X-linked adrenoleukodystrophy, Genetics Home reference website
|
| Adult SMA |
N/A |
N/A |
No information
|
| Adult-onset ALD |
N/A |
N/A |
No information
|
| Albinism |
N/A |
N/A |
No information
|
| Alexander Syndrome |
N/A |
N/A |
rare
|
| Autoimmune Lymphoproliferative Syndrome |
N/A |
N/A |
very rare; NIAID mentions 58 individuals
|
| Batten Disease |
N/A |
N/A |
No information
|
| Canavan disease |
N/A |
N/A |
1 per 6,400 - 13,500 people of Ashkenazi Jewish heritage suffer from Canavan disease, Genetics Home Reference website
|
| Charcot-Marie-Tooth Disorder |
N/A |
N/A |
150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website
|
| Chronic Granulomatous Disease |
N/A |
N/A |
1-in-4 million to 5 million (NIAID)
|
| Classic childhood ALD |
N/A |
N/A |
No information
|
| Classic galactosemia |
N/A |
N/A |
No information
|
| Congenital adrenal hyperplasia |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome |
N/A |
N/A |
estimated 1 per 250,000 people suffer from the vascular type of Ehlers-Danlos syndrome, Genetics Home Reference website
|
| Epidermolysis bullosa |
N/A |
N/A |
No information
|
| Familial polyposis |
N/A |
N/A |
No information
|
| Fatal familial insomnia |
N/A |
N/A |
No information
|
| Female carrier ALD |
N/A |
N/A |
No information
|
| Fructosuria |
N/A |
N/A |
No information
|
| Galactosemia |
N/A |
N/A |
No information
|
| Gaucher Disease |
N/A |
N/A |
1 per 50,000 - 100,000 people are affected by Gaucher disease, Genetics Home Reference website
|
| GSS (Gerstmann Sträussler Syndrome) |
N/A |
N/A |
No information
|
| Hallervorden-Spatz disease |
N/A |
N/A |
rare
|
| Hereditary Spastic Paraplegia |
N/A |
N/A |
No information
|
| Heritable Disorders of Connective Tissue |
N/A |
N/A |
estimated 1 million people in USA with heritable connective tissue disorder (NIAMS)
|
| Hyper-IgM Syndrome |
N/A |
N/A |
No information
|
| Hyperkalemic periodic paralysis |
N/A |
N/A |
1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website
|
| Hypokalemic periodic paralysis |
N/A |
N/A |
1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website
|
| Infantile Refsum Disease |
N/A |
N/A |
No information
|
| Joubert Syndrome |
N/A |
N/A |
rare
|
| Lesch-Nyhan syndrome |
N/A |
N/A |
1 per 380,000 people are affected by Lesch-Nyhan syndrome worldwide, Genetics Home Reference website
|
| Metachromatic Leukodystrophy |
N/A |
N/A |
No information
|
| Mobius syndrome |
N/A |
N/A |
rare
|
| Multiple endocrine neoplasia |
N/A |
N/A |
No information
|
| Multiple endocrine neoplasia type 1 |
N/A |
N/A |
3 per 100,000 up to 20 per 100,000 (NIDDK)
|
| Multiple endocrine neoplasia type 2 |
N/A |
N/A |
about 1 per 300 000 people suffer from multiple endocrine neoplasia type 1 in the US, Genetics Home Reference website
|
| Multiple endocrine neoplasia type 3 |
N/A |
N/A |
No information
|
| Myotonic Dystrophy |
N/A |
N/A |
Type I myotonic dystrophy accounts for 98% of all cases of myotonic dystrophy, Genetics Home Reference website
|
| Neonatal ALD |
N/A |
N/A |
No information
|
| Neurofibromatosis |
N/A |
N/A |
No information
|
| Neurofibromatosis-1 |
N/A |
N/A |
1 per 3,000 - 4,000 people suffer from neurofibromatosis type 1 worldwide, Genetics Home Reference website
|
| Niemann-Pick disease |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta |
N/A |
N/A |
6-7 per 100,000 people are affected by osteogenesis imperfecta worldwide, Genetics Home Reference website
|
| Periodic Paralyses |
N/A |
N/A |
No information
|
| Phenylketonuria |
N/A |
N/A |
1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US, Genetics Home Reference website
|
| Polycystic kidney disease |
N/A |
N/A |
600,000 Americans
|
| Porphyria |
N/A |
N/A |
No information
|
| Progeria |
N/A |
N/A |
over 100 cases of Hutchinson-Gilford progeria syndrome have been reported worldwide since 1886, Genetics Home Reference website
|
| Refsum Disease |
N/A |
N/A |
No information
|
| Retinoblastoma |
N/A |
N/A |
3% of cancers in children under the age of 15 are due to retinoblastomas, Genetics Home Reference website
|
| Rett's syndrome |
N/A |
N/A |
estimated 1 per 10,000 - 22,000 females suffer from Rett syndrome, Genetics Home Reference website
|
| Sandhoff Disease |
N/A |
N/A |
rare
|
| SCID |
N/A |
N/A |
approximately 1-per-500,000 (NIDCD); 1-per-million
|
| Soto's Syndrome |
N/A |
N/A |
rare
|
| Spinal Muscular Atrophy |
N/A |
N/A |
1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website
|
| Tuberous sclerosis |
N/A |
N/A |
less than 1 in 10,000
|
| Von Willebrand disease |
N/A |
N/A |
estimated 3 million mostly undiagnosed
|
| Williams Syndrome |
N/A |
N/A |
estimated 1 per 7,500 - 20,000 people suffer from Williams syndrome, Genetics Home Reference website
|
| Dup (2) (q34-q37) |
N/A |
N/A |
No information
|
| Dup (2) (q33.3-qter), mosaicism with del (2) (pter-p25.3) |
N/A |
N/A |
No information
|
| Dup (2) (q33-qter) and dup (21) (pter-q21) |
N/A |
N/A |
No information
|
| Dup (2) (q33-qter) and del (9) (pter-p24) |
N/A |
N/A |
No information
|
| Dup (2) (q33-qter) |
N/A |
N/A |
No information
|
| Dup (2) (q33-q37) |
N/A |
N/A |
No information
|
| Dup (2) (q33.1-q35) |
N/A |
N/A |
No information
|
| Dup (2) (q32-qter) and del (20) (pter-p12) |
N/A |
N/A |
No information
|
| Dup (2) (q32-qter) and del (7) (pter-p22) |
N/A |
N/A |
No information
|
| Dup (2) (q32.3-qter) |
N/A |
N/A |
No information
|
| Dup (2) (q32-qter) |
N/A |
N/A |
No information
|
| Dup (2) (q32-q37) |
N/A |
N/A |
No information
|
| Dup (2) (q32.1-q35) |
N/A |
N/A |
No information
|
| Dup (2) (q21-q33 |
N/A |
N/A |
No information
|
| Dup (2) (q21-q31) |
N/A |
N/A |
No information
|
| Trip (2) (q11.2-q21) |
N/A |
N/A |
No information
|
| Dup (2) (q11.2-q21.1) |
N/A |
N/A |
No information
|
| Dup (2) (q11.2-q21) |
N/A |
N/A |
No information
|
| Dup (2) (q11.2-q14.2) |
N/A |
N/A |
No information
|
| Dup (2) (q11.2-q13) |
N/A |
N/A |
No information
|
| Dup (2) (p11.2-q14.1) mosaicism |
N/A |
N/A |
No information
|
| Dup (2) (p11-q14) |
N/A |
N/A |
No information
|
| Dup (2) (p13-q12) |
N/A |
N/A |
No information
|
| Dup (2) (p21-p12) |
N/A |
N/A |
No information
|
| Dup (2) (p21-p13) |
N/A |
N/A |
No information
|
| Dup (2) (p22-p16) |
N/A |
N/A |
No information
|
| Dup (2) (p22-p21) |
N/A |
N/A |
No information
|
| Dup (2) (p23-p14) |
N/A |
N/A |
No information
|
| Dup (2) (p23-p21) |
N/A |
N/A |
No information
|
| Dup (2) (p24.2-p21.0) |
N/A |
N/A |
No information
|
| Dup (2) (p25-p21) |
N/A |
N/A |
No information
|
| Dup (2) (p25.2-p23) |
N/A |
N/A |
No information
|
| Dup (2) (p25.3-p25.1) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p12) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p13) and del (5) (pter-p15) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p13)) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p21) and dup (21) (pter-q21) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p21) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p22.3) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p23) and del (pter-p15) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p23) and del (4) (q35-qter) |
N/A |
N/A |
No information
|
| Dup (2) (pter-p23) |
N/A |
N/A |
No information
|
| Del (2) (q37.1-qter) and dup (14) (q31.2-qter) |
N/A |
N/A |
No information
|
| Del (2) (q37.3-qter) and dup (11) (q23.3-qter) |
N/A |
N/A |
No information
|
| Del (2) (q37-qter) and dup (10) (pter-p13) |
N/A |
N/A |
No information
|
| Del (2) (q37.3-qter) and dup (8) (q24.3-qter)) |
N/A |
N/A |
No information
|
| Del (2) (q37-qter) and del (6) (q27-qter) |
N/A |
N/A |
No information
|
| Del (2) (q37.2-qter) |
N/A |
N/A |
No information
|
| Del (2) (q37.1-qter) |
N/A |
N/A |
No information
|
| Del (2) (q36-qter) |
N/A |
N/A |
No information
|
| Del (2q36) |
N/A |
N/A |
No information
|
| Del (2) (q35-qter) |
N/A |
N/A |
No information
|
| Del (2) (q35-q36.2) |
N/A |
N/A |
No information
|
| Del (2) (q34-qter) and dup (2) (pter-p24) |
N/A |
N/A |
No information
|
| Del (2) (q34-q36) |
N/A |
N/A |
No information
|
| Del (2) (q33.3-q34) |
N/A |
N/A |
No information
|
| Del (2) (q33-qter) |
N/A |
N/A |
No information
|
| Del (2) (q33-q36) |
N/A |
N/A |
No information
|
| Del (2) (q33.1-q33.3) |
N/A |
N/A |
No information
|
| Del (2) (q32.3-q34) |
N/A |
N/A |
No information
|
| Del (2) (q32.1-q34) |
N/A |
N/A |
No information
|
| Del (2) (q32.3-q33.3) |
N/A |
N/A |
No information
|
| Del (2) (q32.2-q33.1) |
N/A |
N/A |
No information
|
| Del (2) (q32-q33) |
N/A |
N/A |
No information
|
| Del (2) (q24.3-q31) |
N/A |
N/A |
No information
|
| Del (2) (q24-q31) |
N/A |
N/A |
No information
|
| Del (2) (q23-q34) mosaicism |
N/A |
N/A |
No information
|
| Del (2) (q23.3-q24.2) |
N/A |
N/A |
No information
|
| Del (2) (q23-q24.3) |
N/A |
N/A |
No information
|
| Del (2) (q22-q31) |
N/A |
N/A |
No information
|
| Del (2) (q22-q24.2) |
N/A |
N/A |
No information
|
| Del (2) (q22.3-q23.3) |
N/A |
N/A |
No information
|
| Del (2) (q22-q23) |
N/A |
N/A |
No information
|
| Del (2) (q21-q24) |
N/A |
N/A |
No information
|
| Del (2) (q21-q23) |
N/A |
N/A |
No information
|
| Del (2) (q14-q21) |
N/A |
N/A |
No information
|
| Del (2) (q13-q21.3) |
N/A |
N/A |
No information
|
| Del (2) (q13-q21) |
N/A |
N/A |
No information
|
| Del (2) (q12-q14) |
N/A |
N/A |
No information
|
| Del (2) (p13-p11.2) |
N/A |
N/A |
No information
|
| Del (2) (p13-p11) |
N/A |
N/A |
No information
|
| Del (2) (p15-p13) |
N/A |
N/A |
No information
|
| Del (2p21) -- del (2) (p22-p16) |
N/A |
N/A |
No information
|
| Del (2) (p22.1-p21) |
N/A |
N/A |
No information
|
| Del (2) (p22-p21) |
N/A |
N/A |
No information
|
| Del (2) (p23-p21.3) |
N/A |
N/A |
No information
|
| Del (2) (p23-p21) |
N/A |
N/A |
No information
|
| Del (2) (p25.1-p24.2) |
N/A |
N/A |
No information
|
| Del (2) (p25.1-p23.3) |
N/A |
N/A |
No information
|
| Del (2) (p25.1-p23) |
N/A |
N/A |
No information
|
| Del (2) (pter-p24) and dup (18) (q21-qter) |
N/A |
N/A |
No information
|
| Del (2) (pter-p24) |
N/A |
N/A |
No information
|
| Trisomy 1q44-qter |
N/A |
N/A |
No information
|
| Dup (1) (q44-qter) |
N/A |
N/A |
No information
|
| Dup (1) (q42-qter) & del (18p) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p14) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p21) and del (18) (q21-qter) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p21) and del (18p) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p21) and del (1) (q43-qter) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p21) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p22) and del (X) (pter-p22) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p22.1) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p22) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p23) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p24) and del (18) (q22-qter) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p24.1) and del (7) (pter-p22) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p24.3) and del (7) (pter-p22.1) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p24) and del (4) (pter-p16) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p24) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p25) and del (18) (q21-qter) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p25.1) and del (12) (pter-p13.3) |
N/A |
N/A |
No information
|
| Dup (3) (pter-p25) |
N/A |
N/A |
No information
|
| Del (3) (q29-qter) |
N/A |
N/A |
No information
|
| Del (3) (q28-qter) |
N/A |
N/A |
No information
|
| Del (3) (q22.2-q23) |
N/A |
N/A |
No information
|
| Del (3) (q21-q23) |
N/A |
N/A |
No information
|
| Del (3) (q21.3-q22.3) |
N/A |
N/A |
No information
|
| Del (3q21) and del (13q22.2) |
N/A |
N/A |
No information
|
| Del (3) (q13-q22) |
N/A |
N/A |
No information
|
| Del (3) (q13.12-q21.3) |
N/A |
N/A |
No information
|
| Del (3) (q12-q23) |
N/A |
N/A |
No information
|
| Del (3) (q12-q22) |
N/A |
N/A |
No information
|
| Del (3) (q12-q21) |
N/A |
N/A |
No information
|
| Del (3) (q11-q21) |
N/A |
N/A |
No information
|
| Del (3) (p14.2-p11) |
N/A |
N/A |
No information
|
| Del (3) (p14.2-p12) |
N/A |
N/A |
No information
|
| Del (3) (p21.1-p12) |
N/A |
N/A |
No information
|
| Del (3) (p21-p12) |
N/A |
N/A |
No information
|
| Del (3) (p21.1-p13) |
N/A |
N/A |
No information
|
| Del (3) (p24.12-p23) |
N/A |
N/A |
No information
|
| Del (3) (pter-p25) and dup (20) (q13-qter) |
N/A |
N/A |
No information
|
| Del (3) (pter-p25) and dup (17) (q23-qter) |
N/A |
N/A |
No information
|
| Del (3) (pter-p25) and dup (4) (pter-p16.1) |
N/A |
N/A |
No information
|
| Del (3) (pter-p25) and dup (2) (pter-p25.3) |
N/A |
N/A |
No information
|
| Del (3) (pter-p25) mosaicism |
N/A |
N/A |
No information
|
| Del (3) (pter-p25.1) |
N/A |
N/A |
No information
|
| Del (3) (pter-p25.23) |
N/A |
N/A |
No information
|
| Del (3) (pter-25.3) |
N/A |
N/A |
No information
|
| Del (3) (pter-25) |
N/A |
N/A |
No information
|
| Del (3) (pter-p26) and (dup (12) (pter-p13.1) |
N/A |
N/A |
No information
|
| Del (3) (pter-26) |
N/A |
N/A |
No information
|
| Dup (2) (q34-qter) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16) and dup (8) (pter-p21) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16) and dup (8) (pter-p23) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16.3) and dup (8) (pter-p23.1) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16 or p16.1) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16.3) and dup (5) (pter-15.3) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16.2) and dup (2) (q37.1-qter) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16.2) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16.3) |
N/A |
N/A |
No information
|
| Chromosome 4, trisomy 4q25 qter |
N/A |
N/A |
No information
|
| Chromosome 4, partial trisomy distal 4q |
N/A |
N/A |
No information
|
| Chromosome 19q13.11 Deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome Xp11.23-p11.22 Duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 6pter-p24 Deletion Syndrome |
N/A |
N/A |
No information
|
| Dup (3) (q27.1-qter) mosaicism |
N/A |
N/A |
No information
|
| Dup (3) (q26.2-qter) and del (18p) |
N/A |
N/A |
No information
|
| Dup (3) (q25-qter) and del (13) (q32-qter) |
N/A |
N/A |
No information
|
| Dup (3) (q25-qter) |
N/A |
N/A |
No information
|
| Dup (3) (q25-q28) |
N/A |
N/A |
No information
|
| Dup (3) (q25-q27) |
N/A |
N/A |
No information
|
| Dup (3) (25.1-q26.1) |
N/A |
N/A |
No information
|
| Dup (3) (q25-q26.2) |
N/A |
N/A |
No information
|
| Dup (3) (q24-q26) |
N/A |
N/A |
No information
|
| Dup (3) (q23-qter) and del (3) (pter-p25) |
N/A |
N/A |
No information
|
| Dup (3) (q23-q27) |
N/A |
N/A |
No information
|
| Dup (3) (q22-qter) and del (13) (q32-qter) |
N/A |
N/A |
No information
|
| Dup (3) (q22-q27) |
N/A |
N/A |
No information
|
| Dup (3) (q22.1-q24) |
N/A |
N/A |
No information
|
| Dup (3) (q21-qter) and del (11) (q23-qter) |
N/A |
N/A |
No information
|
| Dup (3) (q21-qter) and del (5) (pter-p15.2) |
N/A |
N/A |
No information
|
| Dup (3) (q21-qter) |
N/A |
N/A |
No information
|
| Dup (3) (q12-qter) and del (X) (pter-p21) |
N/A |
N/A |
No information
|
| Dup (3) (q12-qter) |
N/A |
N/A |
No information
|
| Dup (3) (p14-p11) |
N/A |
N/A |
No information
|
| Dup (3) (p22-p14) |
N/A |
N/A |
No information
|
| Dup (3) (p24-p21) and del (3) (p14-p13) |
N/A |
N/A |
No information
|
| Dup (3) (p25-p21.3) |
N/A |
N/A |
No information
|
| Dup (3) (p26-p21.3) and del (3) (pter-p26) |
N/A |
N/A |
No information
|
| Dup (3) (p26-p21) and del (3) (pter-p26) |
N/A |
N/A |
No information
|
| Dup (1) (q25-qter) and del (18p) |
N/A |
N/A |
No information
|
| Dup(1) (q25-q32) |
N/A |
N/A |
No information
|
| Dup(1) (q24-q41) |
N/A |
N/A |
No information
|
| Dup(1) (q24-q31.2) |
N/A |
N/A |
No information
|
| Dup (1) (q23-qter) and del (3)(pter-p25) |
N/A |
N/A |
No information
|
| Dup (1) (q21.2-qter) and dup (14)(pter-q13) |
N/A |
N/A |
No information
|
| Dup(1) (q11-q25) mosaicism |
N/A |
N/A |
No information
|
| Dup (1) (q11-q22) |
N/A |
N/A |
No information
|
| +r(1) and +r(16) |
N/A |
N/A |
No information
|
| Dup(1) (p22.1-p13.3) |
N/A |
N/A |
No information
|
| Dup(1) (p31-p11) |
N/A |
N/A |
No information
|
| Dup(1) (p31.4-p22.1) |
N/A |
N/A |
No information
|
| Dup(1) (p31-p21) |
N/A |
N/A |
No information
|
| Dup(1) (p32-p21.2) |
N/A |
N/A |
No information
|
| Dup(1) (p34.1-p31) |
N/A |
N/A |
No information
|
| Dup(1) (p35-p31) |
N/A |
N/A |
No information
|
| Dup(1p36.3) |
N/A |
N/A |
No information
|
| Dup (1)(pter-p31) and del(2)(q33-qter) |
N/A |
N/A |
No information
|
| Del(1) (q44-qter) |
N/A |
N/A |
No information
|
| Del(1) (q43-qter) & dup (22) (pter-q13) |
N/A |
N/A |
No information
|
| Del(1) (q42-qter) |
N/A |
N/A |
No information
|
| Del(1) (q41-qter) |
N/A |
N/A |
No information
|
| Del(1) (q41-q43) |
N/A |
N/A |
No information
|
| Del(1) (q32-q42) |
N/A |
N/A |
No information
|
| Del(1) (q32-q41) |
N/A |
N/A |
No information
|
| Del(1q32) |
N/A |
N/A |
No information
|
| Del(1) (q25-q32) |
N/A |
N/A |
No information
|
| Hypopigmentation/Deafness of Tietz |
N/A |
N/A |
No information
|
| Del(1) (q25.2-q31.2) |
N/A |
N/A |
No information
|
| Del(1) (q24-q25.3) |
N/A |
N/A |
No information
|
| Del(1) (23-q25) |
N/A |
N/A |
No information
|
| Del(1) (q12-q21.3) |
N/A |
N/A |
No information
|
| Del(1) (p22.3-p13.3) |
N/A |
N/A |
No information
|
| Del(1) (p34.1-p32.3) |
N/A |
N/A |
No information
|
| Del(1) (p34.3-p34.1) |
N/A |
N/A |
No information
|
| Del(1) (p36.1-p34.1) |
N/A |
N/A |
No information
|
| Del(1) (p36.2-p36.1) |
N/A |
N/A |
No information
|
| Del(1) (pter-p34) |
N/A |
N/A |
No information
|
| Del(1) (pter-p35) |
N/A |
N/A |
No information
|
| Del(1) (pter-p36.2) |
N/A |
N/A |
No information
|
| Del (1) (pter-p36.3) mosaicism |
N/A |
N/A |
No information
|
| Chromosome 1, pter-p36 |
N/A |
N/A |
No information
|
| Dup (1) (q32-qter) and del (7)(q32-qter) |
N/A |
N/A |
No information
|
| Dup (1) (q32-qter) and del (3)(pter-p25) |
N/A |
N/A |
No information
|
| Deletion 22q13 |
N/A |
N/A |
No information
|
| Chromosome 22, monosome mosaic |
N/A |
N/A |
No information
|
| Chromosome 20, deletion 20p |
N/A |
N/A |
No information
|
| Chromosome 18 mosaic monosomy |
N/A |
N/A |
No information
|
| Duplication 18 |
N/A |
N/A |
No information
|
| Deletion 18q |
N/A |
N/A |
No information
|
| Chromosome 17 trisomy |
N/A |
N/A |
No information
|
| Chromosome 17 deletion |
N/A |
N/A |
No information
|
| Chromosome 15q duplication mosaicism |
N/A |
N/A |
No information
|
| Chromosome 15q, tetrasomy |
N/A |
N/A |
No information
|
| Chromosome 15q, trisomy |
N/A |
N/A |
No information
|
| Chromosome 14, trisomy mosaic |
N/A |
N/A |
No information
|
| Chromosome 14 trisomy |
N/A |
N/A |
No information
|
| Chromosome 14 deletion |
N/A |
N/A |
No information
|
| Deletion 14q partial duplication 14p partial |
N/A |
N/A |
No information
|
| Chromosome 14q terminal deletion syndrome |
N/A |
N/A |
No information
|
| Duplication 13 |
N/A |
N/A |
No information
|
| Deletion 13q |
N/A |
N/A |
No information
|
| Deletion 13q14 |
N/A |
N/A |
No information
|
| Monosomy 13q32 |
N/A |
N/A |
No information
|
| Uniparental disomy of 13 |
N/A |
N/A |
No information
|
| Monosomy 12p13 |
N/A |
N/A |
No information
|
| Duplication 12p |
N/A |
N/A |
No information
|
| Duplication 12q |
N/A |
N/A |
No information
|
| Chromosome 12p deletion |
N/A |
N/A |
No information
|
| Chromosome 12p partial deletion |
N/A |
N/A |
No information
|
| Chromosome 11p, partial deletion |
N/A |
N/A |
No information
|
| Chromosome 11, deletion 11p |
N/A |
N/A |
No information
|
| $10q Partial Trisomy$ |
N/A |
N/A |
No information
|
| Deletion 11q |
N/A |
N/A |
No information
|
| Chromosome 10, trisomy 10p |
N/A |
N/A |
No information
|
| Chromosome 10, uniparental disomy of |
N/A |
N/A |
No information
|
| Deletion 10pter |
N/A |
N/A |
No information
|
| Chromosome 9 inversion or duplication |
N/A |
N/A |
No information
|
| Chromosome 9, partial trisomy 9p |
N/A |
N/A |
No information
|
| Chromosome 9q duplication |
N/A |
N/A |
No information
|
| Chromosome 9, trisomy |
N/A |
N/A |
No information
|
| Chromosome 8, trisomy 8q |
N/A |
N/A |
No information
|
| Duplication 8p |
N/A |
N/A |
No information
|
| Chromosome 8, monosomy 8p |
N/A |
N/A |
No information
|
| Chromosome 8, monosomy 8q |
N/A |
N/A |
No information
|
| Chromosome 8, mosaic trisomy |
N/A |
N/A |
No information
|
| Chromosome 8, trisomy |
N/A |
N/A |
No information
|
| Chromosome 8, partial trisomy |
N/A |
N/A |
No information
|
| Chromosome 8 deletion |
N/A |
N/A |
No information
|
| Chromosome 7, trisomy mosaic |
N/A |
N/A |
No information
|
| Chromosome 7, Monosomy |
N/A |
N/A |
No information
|
| Chromosome 7, trisomy 7p |
N/A |
N/A |
No information
|
| Chromosome 7, trisomy 7q |
N/A |
N/A |
No information
|
| Deletion 6q |
N/A |
N/A |
No information
|
| Chromosome 6, trisomy 6p |
N/A |
N/A |
No information
|
| Duplication 6q |
N/A |
N/A |
No information
|
| Chromosome 5, trisomy 5q |
N/A |
N/A |
No information
|
| Deletion 5p |
N/A |
N/A |
No information
|
| Chromosome 4 short arm deletion |
N/A |
N/A |
No information
|
| Chromosome 4, trisomy 4q |
N/A |
N/A |
No information
|
| Chromosome 3 duplication syndrome |
N/A |
N/A |
No information
|
| Deletion 3p |
N/A |
N/A |
No information
|
| Chromosome 2, trisomy 2q |
N/A |
N/A |
No information
|
| Chromosome 2, trisomy 2p |
N/A |
N/A |
No information
|
| Chromosome 2, monosomy 2q |
N/A |
N/A |
No information
|
| Chromosome 2, monosomy 2q24 |
N/A |
N/A |
No information
|
| Chromosome 1, uniparental disomy 1q12 q21 |
N/A |
N/A |
No information
|
| Chromosome 1q deletion |
N/A |
N/A |
No information
|
| Deletion 20p |
N/A |
N/A |
No information
|
| Monosomy 20p |
N/A |
N/A |
No information
|
| Monosomy 18 Mosaic |
N/A |
N/A |
No information
|
| Monosomy 18 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 14 Mosaic |
N/A |
N/A |
No information
|
| Trisomy 14 Mosaicism Syndrome |
N/A |
N/A |
No information
|
| Chromosome 14qter deletion |
N/A |
N/A |
No information
|
| $14qter deletion Syndrome$ |
N/A |
N/A |
No information
|
| Chromosome 13q deletion |
N/A |
N/A |
No information
|
| Monosomy 13q14 |
N/A |
N/A |
No information
|
| Deletion 13q32 |
N/A |
N/A |
No information
|
| Deletion 12p13 |
N/A |
N/A |
No information
|
| Chromosome 12, 12p trisomy |
N/A |
N/A |
No information
|
| Chromosome 12, trisomy 12q |
N/A |
N/A |
No information
|
| Deletion 11p |
N/A |
N/A |
No information
|
| Duplication 10q partial |
N/A |
N/A |
No information
|
| Duplication 10p |
N/A |
N/A |
No information
|
| Duplication 9p partial |
N/A |
N/A |
No information
|
| Chromosome 9, trisomy 9q |
N/A |
N/A |
No information
|
| Duplication 8q |
N/A |
N/A |
No information
|
| Chromosome 8, trisomy 8p |
N/A |
N/A |
No information
|
| Deletion 8p |
N/A |
N/A |
No information
|
| Deletion 8q |
N/A |
N/A |
No information
|
| Deletions of chromosome 8 |
N/A |
N/A |
No information
|
| Duplication 7p |
N/A |
N/A |
No information
|
| Duplication 7q |
N/A |
N/A |
No information
|
| Chromosome 6, monosomy 6q |
N/A |
N/A |
No information
|
| Duplication 6p |
N/A |
N/A |
No information
|
| Chromosome 6, trisomy 6q |
N/A |
N/A |
No information
|
| Duplication 5q |
N/A |
N/A |
No information
|
| Deletion 4p |
N/A |
N/A |
No information
|
| Duplication 2q |
N/A |
N/A |
No information
|
| Duplication 2p |
N/A |
N/A |
No information
|
| Deletion 2q |
N/A |
N/A |
No information
|
| Chromosome 1, monosomy 1q32 q42 |
N/A |
N/A |
No information
|
| Chromosome 1, monosomy 1q25 q32 |
N/A |
N/A |
No information
|
| Chromosome 3, monosomy 3p25 |
N/A |
N/A |
No information
|
| Chromosome 14q, proximal duplication |
N/A |
N/A |
No information
|
| Chromosome 1, monosomy 1p34 p32 |
N/A |
N/A |
No information
|
| Chromosome 3, monosomy 3q13 |
N/A |
N/A |
No information
|
| Chromosome 10, trisomy 10pter p13 |
N/A |
N/A |
No information
|
| Chromosome 6, monosomy 6p23 |
N/A |
N/A |
No information
|
| Chromosome 4, monosomy 4p14 p16 |
N/A |
N/A |
No information
|
| Chromosome 1, monosomy 1p32 |
N/A |
N/A |
No information
|
| Chromosome 1, monosomy 1p31 p22 |
N/A |
N/A |
No information
|
| Chromosome 1, monosomy 1p22 p13 |
N/A |
N/A |
No information
|
| Chromosome 2, monosomy 2p22 |
N/A |
N/A |
No information
|
| Chromosome 3, monosomy 3p14 p11 |
N/A |
N/A |
No information
|
| Chromosome 1, trisomy 1q32 qter |
N/A |
N/A |
No information
|
| Chromosome 1, trisomy 1q42 qter |
N/A |
N/A |
No information
|
| Chromosome 2, trisomy 2pter p24 |
N/A |
N/A |
No information
|
| Chromosome 9, trisomy 9q32 |
N/A |
N/A |
No information
|
| Chromosome 1, deletion q21 q25 |
N/A |
N/A |
No information
|
| Chromosome 7 deletion p21.1-p22.1 |
N/A |
N/A |
No information
|
| Chromosome diploid-triploid mosaicism syndrome |
N/A |
N/A |
No information
|
| Chromosome 2, monosomy 2pter p24 |
N/A |
N/A |
No information
|
| Chromosomes 1 and 2, monosomy 2q duplication 1p |
N/A |
N/A |
No information
|
| Chromosome 2, monosomy 2q37 |
N/A |
N/A |
No information
|
| Chromosome 11;14 translocation |
N/A |
N/A |
No information
|
| Chromosome 13q-mosaicism |
N/A |
N/A |
No information
|
| Chromosome 6, deletion 6q13q15 |
N/A |
N/A |
No information
|
| Chromosome 7, monosomy 7q2 |
N/A |
N/A |
No information
|
| Chromosome 6, monosomy 6q1 |
N/A |
N/A |
No information
|
| Cone-Rod Dystrophy, X-linked, 1 |
N/A |
N/A |
No information
|
| Cone-Rod Dystrophy, X-linked, 3 |
N/A |
N/A |
No information
|
| Cone-Rod Dystrophy, X-linked, 2 |
N/A |
N/A |
No information
|
| Chromosome 22q13.3 deletion syndrome |
N/A |
N/A |
No information
|
| Microphthalmia, syndromic 7 |
N/A |
N/A |
No information
|
| Chromosome 22q11.2 microduplication |
N/A |
N/A |
No information
|
| Chromosome 9, trisomy 9p |
N/A |
N/A |
No information
|
| $1q proximal deletion$ |
N/A |
N/A |
No information
|
| Chromosome 17 trisomy mosaicism |
N/A |
N/A |
No information
|
| Chromosome 10p duplication/10q deletion syndrome |
N/A |
N/A |
No information
|
| Dup (5)(q32-qter) |
N/A |
N/A |
No information
|
| Chromosome 15q duplication syndrome |
N/A |
N/A |
No information
|
| Dup (5)(q31-qter) |
N/A |
N/A |
No information
|
| Chromosome 13, Partial Monosomy 13q |
N/A |
N/A |
No information
|
| Chromosome 11, Partial Monosomy 11q |
N/A |
N/A |
No information
|
| Chromosome 3, Monosomy 3p2 |
N/A |
N/A |
No information
|
| Chromosome 21 Ring |
N/A |
N/A |
No information
|
| Chromosome 18, Monosomy 18p |
N/A |
N/A |
No information
|
| Chromosome 18, Tetrasomy 18p |
N/A |
N/A |
No information
|
| Y Chromosome Disorders |
N/A |
N/A |
No information
|
| X Chromosome Disorders |
N/A |
N/A |
No information
|
| Chromosome 6 Ring |
N/A |
N/A |
No information
|
| Chromosome 22 Ring |
N/A |
N/A |
No information
|
| Chromosome 4 Ring |
N/A |
N/A |
No information
|
| Chromosome 7, monosomy 7q3 |
N/A |
N/A |
No information
|
| Thyroid cancer, familial medullary |
N/A |
N/A |
No information
|
| Stomach cancer, familial |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 2 |
N/A |
N/A |
No information
|
| Spastic Paraplegia 42, Autosomal Dominant |
N/A |
N/A |
No information
|
| Familial Colorectal Cancer |
N/A |
N/A |
No information
|
| Hereditary colorectal cancer |
N/A |
N/A |
No information
|
| Nonpolyposis colorectal cancer, familial |
N/A |
N/A |
No information
|
| Colorectal adenomatous polyposis, recessive |
N/A |
N/A |
No information
|
| Hereditary Polyposis Coli |
N/A |
N/A |
No information
|
| Familial Multiple Polyposis |
N/A |
N/A |
No information
|
| Familial Intestinal Polyposis |
N/A |
N/A |
No information
|
| Colon Cancer, Familial |
N/A |
N/A |
No information
|
| Polyposis, Adenomatous Intestinal, autosomal dominant |
N/A |
N/A |
No information
|
| Adenomatous Polyposis of the Colon, autosomal dominant |
N/A |
N/A |
No information
|
| Familial adenomatous polyposis, autosomal dominant |
N/A |
N/A |
No information
|
| Hereditary nonpolyposis colon cancer |
N/A |
N/A |
2-7% of all colorectal cancers are due to hereditary nonpolyposis colorectal cancer
|
| Prostate cancer, familial |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 10 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 11 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 12 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 13 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 14 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 15 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 1 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 2 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 4 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 5 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 6 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 7 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 8 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, 9 |
N/A |
N/A |
No information
|
| Renal cancer, familial |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, X-linked 1 |
N/A |
N/A |
No information
|
| Prostate cancer, hereditary, X-linked 2 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 6 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 18 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 27 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 19 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 28 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 29 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal dominant |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 1 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 2 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 3 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 4 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 6 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 7 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 8 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 9 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 10 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 3 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 3A |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 3B |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 4 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 5 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 6 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 7 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 8 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 9 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 10 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions, 1 |
N/A |
N/A |
No information
|
| Familial Febrile Convulsions |
N/A |
N/A |
No information
|
| Epilepsy, Benign Neonatal, Autosomal Recessive |
N/A |
N/A |
No information
|
| Temporal epilepsy, familial |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 21 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 30 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 12 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 31 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 13 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 22 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 15 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 24 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 41 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 23 |
N/A |
N/A |
No information
|
| Deafness, genetic, nonsyndromic |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 4 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 16 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 25 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 9 |
N/A |
N/A |
No information
|
| Autism, X-linked, susceptibility to, 2 |
N/A |
N/A |
No information
|
| Spastic paraplegia 30, autosomal recessive |
N/A |
N/A |
No information
|
| Autism, X-linked, susceptibility to, 3 |
N/A |
N/A |
No information
|
| Spastic paraplegia 32, autosomal recessive |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 63 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 72 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 29 |
N/A |
N/A |
No information
|
| Spastic paraplegia 33, autosomal dominant |
N/A |
N/A |
No information
|
| Neuropathy sensory spastic paraplegia |
N/A |
N/A |
No information
|
| Spastic paraplegia 3, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 2 |
N/A |
N/A |
No information
|
| Spastic paraplegia 4, autosomal dominant |
N/A |
N/A |
No information
|
| Congenital alopecia X-linked |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 3 |
N/A |
N/A |
No information
|
| Spastic paraplegia 8, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 9, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2AII |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1B |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1D |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2D |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1F |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4F |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2H |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4G |
N/A |
N/A |
No information
|
| Spastic paraplegia type 5A, recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2I |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4H |
N/A |
N/A |
No information
|
| Spastic paraplegia type 5B, recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2J |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 4 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, demyelinating, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth, demyelinating, autosomal recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2L |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 2 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 11 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 20 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 4 |
N/A |
N/A |
No information
|
| Microphthalmia -- cataract |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 12 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 21 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 1 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 13 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 22 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 6 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 14 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 23 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 7 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 3 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 15 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 8 |
N/A |
N/A |
No information
|
| Spastic paraplegia 24 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 5 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 17 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 26 |
N/A |
N/A |
No information
|
| Short QT syndrome 1 |
N/A |
N/A |
No information
|
| Short QT syndrome 2 |
N/A |
N/A |
No information
|
| Short QT syndrome 3 |
N/A |
N/A |
No information
|
| Short QT syndrome, familial |
N/A |
N/A |
No information
|
| Deafness, Autosomal Recessive 1B |
N/A |
N/A |
No information
|
| Deafness, Autosomal Dominant 2B |
N/A |
N/A |
No information
|
| Deafness, Autosomal Dominant 59 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Reish type |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 1 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 2 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 3 |
N/A |
N/A |
No information
|
| Mental retardation, non-syndromic, autosomal recessive |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, with isolated growth hormone deficiency |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Wittwer type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Zorick type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Brooks type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Armfield type |
N/A |
N/A |
No information
|
| Mental retardation -- epilepsy, X-linked |
N/A |
N/A |
No information
|
| Mental Retardation, X-Linked |
N/A |
N/A |
No information
|
| Mental Retardation, Autosomal Dominant, 5 |
N/A |
N/A |
No information
|
| Mental Retardation, Autosomal Dominant, 4 |
N/A |
N/A |
No information
|
| Mental Retardation, Autosomal Dominant, 3 |
N/A |
N/A |
No information
|
| Mental Retardation, Autosomal Dominant, 2 |
N/A |
N/A |
No information
|
| Mental Retardation, Autosomal Dominant, 1 |
N/A |
N/A |
No information
|
| Heterozygous Familial Hypercholesterolemia |
N/A |
N/A |
1 per 500 US people suffer from Heterozygous familial hypercholesterolemia.
|
| Familial Apolipoprotein A-I and C-III Deficiency |
N/A |
N/A |
No information
|
| Familial Apolipoprotein A-I, C-III, A-IV Deficiency |
N/A |
N/A |
No information
|
| Limb-girdle Muscular Dystrophy |
N/A |
N/A |
No information
|
| Muscular dystrophy, Duchenne and Becker type |
N/A |
N/A |
1 per 3,500 - 5,000 male newborns suffer from muscular dystrophy, Duchenne and Becker types, Genetics Home Reference website
|
| Adult progressive spinal muscular atrophy, Aran Duchenne type |
N/A |
N/A |
No information
|
| Becker's muscular dystrophy (BMD) |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2K |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant, type 1F |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant, type 1G |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle -- mental retardation |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1B |
N/A |
N/A |
No information
|
| Limb-Girdle muscular dystrophy type 2A |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1A |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2B |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1C |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2C |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1D |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2D |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1E |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 2 |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2E |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2F |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 4 |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2G |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 5 |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2H |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2I |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb girdle |
N/A |
N/A |
No information
|
| Myasthenia, familial limb-girdle |
N/A |
N/A |
No information
|
| Shoulder girdle defect -- mental retardation, familial |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type I |
N/A |
N/A |
No information
|
| Myopathy, limb-girdle, with bone fragility |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 4 |
N/A |
N/A |
No information
|
| Nonsyndromic hereditary hearing impairment |
N/A |
N/A |
No information
|
| Nystagmus, hereditary vertical |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 5 |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle type 2M |
N/A |
N/A |
No information
|
| Muscular dystrophy limb girdle type 2A, Erb type |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2H |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2B |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb girdle, autosomal recessive, type 2A |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2E |
N/A |
N/A |
No information
|
| Myasthenia, Limb-Girdle, with Tubular Aggregates |
N/A |
N/A |
No information
|
| Shoulder and girdle defect -- mental retardation, familial |
N/A |
N/A |
No information
|
| Muscular Dystrophy, Limb-Girdle, Type 3 |
N/A |
N/A |
No information
|
| Limb-girdle Muscular Dystropy type 1B |
N/A |
N/A |
No information
|
| Parkinson's disease dementia, familial |
N/A |
N/A |
No information
|
| Autosomal recessive limb-girdle muscular dystrophy, type 2G |
N/A |
N/A |
No information
|
| Muscular dystrophy limb-girdle (generic term) |
N/A |
N/A |
No information
|
| Genetic Parkinson disease |
N/A |
N/A |
No information
|
| Parkinson disease, genetic types |
N/A |
N/A |
No information
|
| Parkinson disease 4, autosomal dominant, Lewy body |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 50 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 14 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 23 |
N/A |
N/A |
No information
|
| Right atrium familial dilatation |
N/A |
N/A |
No information
|
| Optic nerve hypoplasia, familial bilateral |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 36 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 54 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 81 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 45 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 72 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 63 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 20 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 91 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 73 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 82 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 46 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 21 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 30 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 12 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 29 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 22 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 31 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 13 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 40 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 84 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 93 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 32 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 14 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 23 |
N/A |
N/A |
No information
|
| Parkinson disease 7, autosomal recessive, early-onset |
N/A |
N/A |
No information
|
| Seizures, benign familial neonatal, recessive form |
N/A |
N/A |
No information
|
| Dystonia musculorum deformans type 1 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, 2 |
N/A |
N/A |
No information
|
| Spastic paraplegia 2, X-linked |
N/A |
N/A |
No information
|
| Dystonia musculorum deformans type 2 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, 3 |
N/A |
N/A |
No information
|
| Hereditary Hemochromatosis |
N/A |
N/A |
No information
|
| Optic Atrophy 4 |
N/A |
N/A |
No information
|
| Optic Atrophy 3, Autosomal Dominant |
N/A |
N/A |
No information
|
| Optic Atrophy 7 |
N/A |
N/A |
No information
|
| Optic atrophy 1 |
N/A |
N/A |
No information
|
| Optic atrophy, idiopathic, autosomal recessive |
N/A |
N/A |
No information
|
| Optic atrophy 2 |
N/A |
N/A |
No information
|
| Optic atrophy 5 |
N/A |
N/A |
No information
|
| Optic atrophy 6 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked, 1 |
N/A |
N/A |
No information
|
| Osteopetrosis autosomal dominant type 1 |
N/A |
N/A |
No information
|
| Optic atrophy 1 and deafness |
N/A |
N/A |
No information
|
| Optic atrophy, autosomal dominant |
N/A |
N/A |
No information
|
| Optic atrophy and cataract, autosomal dominant |
N/A |
N/A |
No information
|
| Collagenopathy, COL3 |
N/A |
N/A |
No information
|
| Collagenopathy, COL4 |
N/A |
N/A |
No information
|
| Collagenopathy, COL5 |
N/A |
N/A |
No information
|
| Collagenopathy, COL6 |
N/A |
N/A |
No information
|
| Collagenopathy, COL7 |
N/A |
N/A |
No information
|
| Collagenopathy, COL8 |
N/A |
N/A |
No information
|
| Collagenopathy, COL9 |
N/A |
N/A |
No information
|
| Collagenopathy, COL10 |
N/A |
N/A |
No information
|
| Collagenopathy, COL11 |
N/A |
N/A |
No information
|
| Collagenopathy, COL17 |
N/A |
N/A |
No information
|
| Collagenopathy, COL1 |
N/A |
N/A |
No information
|
| Collagenopathy, type 2 alpha 1 |
N/A |
N/A |
No information
|
| Deafness, X-linked 5 |
N/A |
N/A |
No information
|
| Deafness, X-linked 6, progressive |
N/A |
N/A |
No information
|
| Deafness, X-Linked 4 |
N/A |
N/A |
No information
|
| Deafness, X-Linked 3 |
N/A |
N/A |
No information
|
| Deafness, X-Linked 4, Sensorineural Congenital |
N/A |
N/A |
No information
|
| Deafness, X-Linked 1 |
N/A |
N/A |
No information
|
| Deafness, X-Linked 2, Sensorineural Congenital |
N/A |
N/A |
No information
|
| Deafness, X-Linked 2 |
N/A |
N/A |
No information
|
| Alpha thalassemia -- silent carrier |
N/A |
N/A |
No information
|
| Alpha thalassemia trait |
N/A |
N/A |
No information
|
| Alpha thalassemia -- Hemoglobin H disease |
N/A |
N/A |
No information
|
| Alpha thalassemia major |
N/A |
N/A |
No information
|
| Beta Thalassemia trait |
N/A |
N/A |
No information
|
| Beta Thalassemia intermedia |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Estren-Dameshek variant |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group B |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group C |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group D1 |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group D2 |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group E |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group F |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group G |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group L |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group I |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group J |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group M |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group N |
N/A |
N/A |
No information
|
| Fanconi's anemia -- Complementation group A |
N/A |
N/A |
No information
|
| Fanconi's anemia |
N/A |
N/A |
No information
|
| Parkinson disease 7, autosomal recessive early-onset (PARK7) |
N/A |
N/A |
No information
|
| Parkinson disease 4, autosomal dominant Lewy body (PARK4) |
N/A |
N/A |
No information
|
| Familial Forms of Alzheimer's Disease |
N/A |
N/A |
No information
|
| Alzheimer disease, familial, 4 |
N/A |
N/A |
No information
|
| Alzheimer disease, familial, 11 |
N/A |
N/A |
No information
|
| Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques |
N/A |
N/A |
No information
|
| Alzheimer disease, familial, 3, with spastic paraparesis and apraxia |
N/A |
N/A |
No information
|
| Parkinson disease, familial, type 1 (PARK1) |
N/A |
N/A |
No information
|
| Parkinson disease 6, autosomal recessive early-onset (PARK6) |
N/A |
N/A |
No information
|
| Parkinson disease 2, autosomal recessive juvenile (PARK2) |
N/A |
N/A |
No information
|
| Parkinson disease 3, autosomal dominant Lewy body (PARK3) |
N/A |
N/A |
No information
|
| Mitochondrial Parkinson's disease |
N/A |
N/A |
No information
|
| Hereditary pancreatitis |
N/A |
N/A |
No information
|
| Nemaline myopathy 1 |
N/A |
N/A |
No information
|
| Nemaline myopathy 2 |
N/A |
N/A |
No information
|
| Nemaline myopathy 3 |
N/A |
N/A |
No information
|
| Nemaline myopathy 4 |
N/A |
N/A |
No information
|
| Nemaline myopathy 5 |
N/A |
N/A |
No information
|
| Nemaline myopathy 6 |
N/A |
N/A |
No information
|
| Nemaline myopathy 7 |
N/A |
N/A |
No information
|
| Narcolepsy 5 |
N/A |
N/A |
No information
|
| Narcolepsy 4 |
N/A |
N/A |
No information
|
| Narcolepsy 3 |
N/A |
N/A |
No information
|
| Narcolepsy 2 |
N/A |
N/A |
No information
|
| Narcolepsy 1 |
N/A |
N/A |
No information
|
| Atrial Fibrillation, Familial 8 |
N/A |
N/A |
No information
|
| Atrial Fibrillation, Familial 7 |
N/A |
N/A |
No information
|
| Atrial Fibrillation, Familial 6 |
N/A |
N/A |
No information
|
| Atrial Fibrillation, Familial 5 |
N/A |
N/A |
No information
|
| Atrial Fibrillation, Familial 4 |
N/A |
N/A |
No information
|
| Atrial Fibrillation, Familial 3 |
N/A |
N/A |
No information
|
| Atrial Fibrillation, Familial 2 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 5 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 4 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 3 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 2 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Muscular Dystrophy 1 |
N/A |
N/A |
No information
|
| Emery-Dreifuss Syndrome |
N/A |
N/A |
No information
|
| Primary Biliary Cirrhosis 3 |
N/A |
N/A |
No information
|
| Primary Biliary Cirrhosis 2 |
N/A |
N/A |
No information
|
| Primary Biliary Cirrhosis 1 |
N/A |
N/A |
No information
|
| Asperger Syndrome, X-linked, Susceptibility to, 2 |
N/A |
N/A |
No information
|
| Asperger Syndrome, X-linked, Susceptibility to, 1 |
N/A |
N/A |
No information
|
| Joubert Syndrome 10 |
N/A |
N/A |
No information
|
| Joubert Syndrome 9 |
N/A |
N/A |
No information
|
| Joubert Syndrome 8 |
N/A |
N/A |
No information
|
| Joubert Syndrome 7 |
N/A |
N/A |
No information
|
| Joubert Syndrome 6 |
N/A |
N/A |
No information
|
| Joubert Syndrome 5 |
N/A |
N/A |
No information
|
| Joubert Syndrome 4 |
N/A |
N/A |
No information
|
| Joubert Syndrome 3 |
N/A |
N/A |
No information
|
| Joubert Syndrome 2 |
N/A |
N/A |
No information
|
| Joubert Syndrome 1 |
N/A |
N/A |
No information
|
| Primary ciliary dyskinesia, 8 |
N/A |
N/A |
No information
|
| Primary ciliary dyskinesia, 12 |
N/A |
N/A |
No information
|
| Primary ciliary dyskinesia, 11 |
N/A |
N/A |
No information
|
| Primary ciliary dyskinesia, 10 |
N/A |
N/A |
No information
|
| Primary ciliary dyskinesia, 9 |
N/A |
N/A |
No information
|
| Primary ciliary dyskinesia, 7 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, 11 |
N/A |
N/A |
No information
|
| Convulsions, benign familial infantile, 3 |
N/A |
N/A |
No information
|
| Convulsions, benign familial infantile, 4 |
N/A |
N/A |
No information
|
| Leber congenital amaurosis, type 12 |
N/A |
N/A |
No information
|
| Amaurosis Congenita of Leber, type 12 |
N/A |
N/A |
No information
|
| Leber congenital amaurosis, type 11 |
N/A |
N/A |
No information
|
| Leber congenital amaurosis, type 10 |
N/A |
N/A |
No information
|
| Leber Congenital Amaurosis, type 13 |
N/A |
N/A |
No information
|
| Amaurosis Congenita of Leber, type 13 |
N/A |
N/A |
No information
|
| Spherocytosis, type 2 |
N/A |
N/A |
No information
|
| Spherocytosis, type 3 |
N/A |
N/A |
No information
|
| Spherocytosis, type 4 |
N/A |
N/A |
No information
|
| Spherocytosis, type 5 |
N/A |
N/A |
No information
|
| Spherocytosis, type 1 |
N/A |
N/A |
No information
|
| Congenital Analgesia, Autosomal dominant |
N/A |
N/A |
No information
|
| Congenital indifference to pain, autosomal dominant |
N/A |
N/A |
No information
|
| Indifference to Pain, Congenital, Autosomal Dominant |
N/A |
N/A |
No information
|
| Congenital Analgesia, Autosomal Recessive |
N/A |
N/A |
No information
|
| Congenital indifference to pain, autosomal recessive |
N/A |
N/A |
No information
|
| Indifference to Pain, Congenital, Autosomal Recessive |
N/A |
N/A |
No information
|
| Nephritis, Familial, without Deafness or Ocular Defect |
N/A |
N/A |
No information
|
| Nephropathy, Familial |
N/A |
N/A |
No information
|
| Progressive nephropathy with hypertension, autosomal dominant |
N/A |
N/A |
No information
|
| Inherited Acroosteolysis, phalangeal type |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 77 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 71 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 45 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 12 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 11 |
N/A |
N/A |
No information
|
| Familial hypertrophic cardiomyopathy 5 |
N/A |
N/A |
No information
|
| Von Willebrand disease, type 3 |
N/A |
N/A |
No information
|
| Von Willebrand disease, type 2N |
N/A |
N/A |
No information
|
| Von Willebrand disease, type 2M |
N/A |
N/A |
No information
|
| Von Willebrand disease, type 2B |
N/A |
N/A |
No information
|
| Von Willebrand disease, type 2A |
N/A |
N/A |
No information
|
| Von Willebrand disease, type 2 |
N/A |
N/A |
No information
|
| Von Willebrand disease, type 1 |
N/A |
N/A |
No information
|
| Colorectal adenomatous polyposis, dominant |
N/A |
N/A |
No information
|
| Autosomal recessive spastic paraplegia, type 11 |
N/A |
N/A |
No information
|
| X-linked sideroblastic anaemia |
N/A |
N/A |
No information
|
| Mitral valve prolapse, familial |
N/A |
N/A |
No information
|
| Hereditary Megaduodenum |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease (generic term) |
N/A |
N/A |
No information
|
| Primary dystonia |
N/A |
N/A |
No information
|
| Retinoschisis, X-linked |
N/A |
N/A |
No information
|
| Congenital tritanopia |
N/A |
N/A |
No information
|
| Congenital Myasthenia Gravis |
N/A |
N/A |
No information
|
| Myasthenia, Familial Infantile, 1 |
N/A |
N/A |
No information
|
| Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors |
N/A |
N/A |
No information
|
| Factor X deficiency -- San Antonio |
N/A |
N/A |
No information
|
| Factor X deficiency -- Friuli |
N/A |
N/A |
No information
|
| Factor X deficiency -- Padua |
N/A |
N/A |
No information
|
| Factor X deficiency -- Nottingham |
N/A |
N/A |
No information
|
| Factor X deficiency -- Kanazawa |
N/A |
N/A |
No information
|
| Factor X deficiency -- Shanghai |
N/A |
N/A |
No information
|
| Factor X deficiency -- St. Louis II |
N/A |
N/A |
No information
|
| Factor X deficiency -- Stockton |
N/A |
N/A |
No information
|
| Factor X deficiency -- Taunton |
N/A |
N/A |
No information
|
| Factor X deficiency -- Vorarlberg |
N/A |
N/A |
No information
|
| Factor X deficiency -- Wenatchee I |
N/A |
N/A |
No information
|
| Factor X deficiency -- Wenatchee II |
N/A |
N/A |
No information
|
| Factor X deficiency -- Santo Domingo |
N/A |
N/A |
No information
|
| Factor X deficiency -- Ketchikan |
N/A |
N/A |
No information
|
| Factor X deficiency -- Tokyo |
N/A |
N/A |
No information
|
| Factor X deficiency -- autosomal dominant |
N/A |
N/A |
No information
|
| Inherited spherocytic anemia |
N/A |
N/A |
No information
|
| Hereditary hypothyroidism |
N/A |
N/A |
No information
|
| Familial pulmonary arterial hypertension |
N/A |
N/A |
No information
|
| Hypercholesterolemia, autosomal recessive |
N/A |
N/A |
No information
|
| Homozygous Familial Hypercholesterolemia |
N/A |
N/A |
1 per 1 million US people suffer from Homozygous familial hypercholesterolemia.
|
| Diamond-Blackfan anemia 1 |
N/A |
N/A |
No information
|
| Diamond-Blackfan anemia 2 |
N/A |
N/A |
No information
|
| Diamond-Blackfan anemia 3 |
N/A |
N/A |
No information
|
| Diamond-Blackfan anemia 4 |
N/A |
N/A |
No information
|
| Diamond-Blackfan anemia 5 |
N/A |
N/A |
No information
|
| Diamond-Blackfan anemia 6 |
N/A |
N/A |
No information
|
| Diamond-Blackfan anemia 7 |
N/A |
N/A |
No information
|
| Diamond-Blackfan anemia 8 |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1F |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1G |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1H |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1I |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1J |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1K |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1L |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1M |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1/IIX |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 2C |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 2D |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 2E |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 2G |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 2H |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type IIH |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 2F |
N/A |
N/A |
No information
|
| Congenital Disorders of Glycosylation |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 8 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 43 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 25 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 9 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 44 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 53 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 17 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 36 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 18 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 47 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 28 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis |
N/A |
N/A |
4-8 per 1000,000 people suffer from amyotrophic lateral sclerosis worldwide, Genetics Home Reference website
|
| Fanconi's syndrome |
N/A |
N/A |
No information
|
| $46,XX testicular disorder of sex development$ |
N/A |
N/A |
No information
|
| $46,XX testicular DSD$ |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 49 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 24 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 33 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 42 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 15 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 51 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 3, Juvenile |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 4 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 6, late infantile |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 5 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 7 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 8 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 9 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 10 |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 1, infantile |
N/A |
N/A |
No information
|
| Ceroid lipofuscinosis, neuronal 2, late infantile type |
N/A |
N/A |
No information
|
| Santavuori Disease |
N/A |
N/A |
No information
|
| Bielschowsky disease |
N/A |
N/A |
No information
|
| Primary Emphysema |
N/A |
N/A |
No information
|
| Homozygotic Alpha 1 antitrypsin Defeciency |
N/A |
N/A |
No information
|
| Mucopolysaccharidoses |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis II |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis III |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis IV |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis VI |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis VII |
N/A |
N/A |
No information
|
| Hurler syndrome |
N/A |
N/A |
No information
|
| Scheie syndrome |
N/A |
N/A |
No information
|
| Morquio syndrome |
N/A |
N/A |
No information
|
| MPS-IV (Morquio Disease) |
N/A |
N/A |
No information
|
| MPS 3 C |
N/A |
N/A |
No information
|
| MPS 3 D |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Stevenson type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Stoll type |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis, type 9 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, syndromic, due to JARID1C mutation |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Turner type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Vitale type |
N/A |
N/A |
No information
|
| Propionic Acidemia |
N/A |
N/A |
No information
|
| Alkaptonuria |
N/A |
N/A |
1 per 19,000 people suffer from alkaptonuria in parts of Slovakia, Genetics Home Reference website
|
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
N/A |
N/A |
No information
|
| Alpha-Mannosidosis |
N/A |
N/A |
No information
|
| The Primary Hyperoxalurias |
N/A |
N/A |
No information
|
| Fucosidosis |
N/A |
N/A |
No information
|
| Familial Lipoprotein Lipase Deficiency |
N/A |
N/A |
No information
|
| The Congenital Lactic Acidoses |
N/A |
N/A |
No information
|
| Succinic Semialdehyde Dehydrogenase Deficiency |
N/A |
N/A |
No information
|
| Urea Cycle Disorders |
N/A |
N/A |
No information
|
| Trimethylaminuria |
N/A |
N/A |
No information
|
| Sialidosis |
N/A |
N/A |
No information
|
| Multiple Sulfatase Deficiency |
N/A |
N/A |
No information
|
| Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency |
N/A |
N/A |
1 per 40,000 - 120,000 people suffer from very long-chain acyl-CoA dehydrogenase deficiency, Genetics Home Reference website
|
| Winchester Syndrome |
N/A |
N/A |
No information
|
| Farber Disease |
N/A |
N/A |
No information
|
| Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
N/A |
N/A |
1 per 17,000 people suffer from medium-chain acyl-CoA dehydrogenase deficiency in the US, Genetics Home Reference website
|
| Carnitine Deficiency Syndromes |
N/A |
N/A |
No information
|
| Aspartylglucosaminuria |
N/A |
N/A |
No information
|
| Human Cytochrome Oxidase Deficiency |
N/A |
N/A |
No information
|
| Carnitine Palmitoyl Transferase II Deficiency |
N/A |
N/A |
No information
|
| Type V Glycogen Storage Disease |
N/A |
N/A |
No information
|
| McArdle disease |
N/A |
N/A |
No information
|
| Forbes disease |
N/A |
N/A |
No information
|
| Andersen disease |
N/A |
N/A |
No information
|
| Type IV Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Type VII Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Type III Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Glutathione Synthetase Deficiency |
N/A |
N/A |
only about 70 cases of glutathione synthetase deficiency have been reported worldwide, Genetics Home Reference website
|
| Type I Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Von Gierke disease IA |
N/A |
N/A |
No information
|
| Von Gierke disease IB |
N/A |
N/A |
No information
|
| Muscular phosphorylase kinase deficiency |
N/A |
N/A |
No information
|
| Von Gierke Disease |
N/A |
N/A |
No information
|
| Fanconi-Bickel syndrome |
N/A |
N/A |
No information
|
| Type 0 Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Glutaric Acidemia Type II |
N/A |
N/A |
No information
|
| Glut-1 Deficiency Syndrome |
N/A |
N/A |
No information
|
| Hartnup Disease |
N/A |
N/A |
No information
|
| Cystinuria |
N/A |
N/A |
approximately 1 per 10,000 people are affected by cystinuria, Genetics Home Reference website
|
| HMG-CoA lyase deficiency |
N/A |
N/A |
less than 100 people have been diagnosed with HMG-CoA lyase deficiency worldwide, Genetics Home Reference website
|
| L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency |
N/A |
N/A |
No information
|
| Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
N/A |
N/A |
No information
|
| $3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency$ |
N/A |
N/A |
No information
|
| LADHSC deficiency |
N/A |
N/A |
No information
|
| M/SCHAD deficiency |
N/A |
N/A |
No information
|
| SCHAD Deficiency -- formerly |
N/A |
N/A |
No information
|
| HADH deficiency |
N/A |
N/A |
No information
|
| $3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency$ |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 4 |
N/A |
N/A |
No information
|
| Marfan Syndrome type 2 |
N/A |
N/A |
No information
|
| Spastic paraplegia 6, autosomal dominant |
N/A |
N/A |
No information
|
| Factor VII deficiency |
N/A |
N/A |
No information
|
| Dicarboxylicaminoaciduria |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 5 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 78 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 35 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 17 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 26 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 62 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 44 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 65 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 47 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 38 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 48 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 66 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 39 |
N/A |
N/A |
No information
|
| Microphthalmia syndromic, type 9 |
N/A |
N/A |
No information
|
| Microphthalmia, isolated with coloboma 3 |
N/A |
N/A |
No information
|
| Microphthalmia, isolated with coloboma 2 |
N/A |
N/A |
No information
|
| Microphthalmia, isolated with coloboma 1 |
N/A |
N/A |
No information
|
| Microphthalmia, isolated with coloboma 4 |
N/A |
N/A |
No information
|
| Microphthalmia, isolated with coloboma 5 |
N/A |
N/A |
No information
|
| Microphthalmia syndromic, type 4 |
N/A |
N/A |
No information
|
| Microphthalmia syndromic, type 8 |
N/A |
N/A |
No information
|
| Microphthalmia syndromic, type 10 |
N/A |
N/A |
No information
|
| Microphthalmia syndromic, type 5 |
N/A |
N/A |
No information
|
| Microphthalmia syndromic, type 6 |
N/A |
N/A |
No information
|
| Microphthalmia isolated 1 |
N/A |
N/A |
No information
|
| Microphthalmia isolated 2 |
N/A |
N/A |
No information
|
| Microphthalmia isolated 3 |
N/A |
N/A |
No information
|
| Microphthalmis, isolated, with cataract 4 |
N/A |
N/A |
No information
|
| Hyperlipoproteinemia type 2 |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, Beasley Cohen type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, progeroid form |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome with periventricular heterotopia |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 2A |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type IIB |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type VIII |
N/A |
N/A |
No information
|
| Phosphoribosylpyrophosphate synthetase superactivity |
N/A |
N/A |
No information
|
| Phosphoenolpyruvate carboxykinase (PEPCK) deficiency |
N/A |
N/A |
No information
|
| Thiopurine S methyltranferase deficiency |
N/A |
N/A |
No information
|
| Autosomal dominant nocturnal frontal lobe epilepsy |
N/A |
N/A |
No information
|
| Thallessemia |
N/A |
N/A |
No information
|
| Very Long Chain Acyl CoA Dehydrogenase Deficiency -- Early onset |
N/A |
N/A |
No information
|
| Very Long Chain Acyl CoA Dehydrogenase Deficiency -- intermediate |
N/A |
N/A |
No information
|
| Very Long Chain Acyl CoA Dehydrogenase Deficiency -- adult-onset |
N/A |
N/A |
No information
|
| Congenital Disorders of Glycosylation Type Ia |
N/A |
N/A |
No information
|
| Ornithine Transcarbamylase Deficiency |
N/A |
N/A |
No information
|
| Citrullinemia |
N/A |
N/A |
No information
|
| Opitz G/BBB Syndrome |
N/A |
N/A |
No information
|
| Opitz G Syndrome |
N/A |
N/A |
No information
|
| Opitz G/BBB Syndrome, Type II |
N/A |
N/A |
No information
|
| Opitz G/BBB syndrome, Autosomal dominant |
N/A |
N/A |
No information
|
| Opitz G/BBB Syndrome, type I |
N/A |
N/A |
No information
|
| Opitz G/BBB Syndrome, X-linked |
N/A |
N/A |
No information
|
| Glycogen Storage Disease Type I |
N/A |
N/A |
No information
|
| Hereditary Congenital Facial Paresis II |
N/A |
N/A |
No information
|
| Hereditary Congenital Facial Paresis 2 |
N/A |
N/A |
No information
|
| Hereditary Congenital Facial Paresis I |
N/A |
N/A |
No information
|
| Hereditary Congenital Facial Paresis |
N/A |
N/A |
No information
|
| Pfeiffer Syndrome Type I |
N/A |
N/A |
No information
|
| Pfeiffer Syndrome Type II |
N/A |
N/A |
No information
|
| Pfeiffer Syndrome Type III |
N/A |
N/A |
No information
|
| Acrocephalosyndactyly Syndrome type 5 |
N/A |
N/A |
No information
|
| Acrocephalosyndactyly type 5 (ACPS 5) |
N/A |
N/A |
No information
|
| Cholestasis -- lymphoedema, syndrome |
N/A |
N/A |
No information
|
| Pfeiffer syndrome |
N/A |
N/A |
1 per 100,000 people suffer from Pfeiffer syndrome, Genetics Home Reference website
|
| Pfeiffer syndrome Type 1 |
N/A |
N/A |
No information
|
| Pfeiffer syndrome Type 2 |
N/A |
N/A |
No information
|
| Pfeiffer syndrome Type 3 |
N/A |
N/A |
No information
|
| $6-pyruvoyl-tetrahydropterin synthase deficiency$ |
N/A |
N/A |
No information
|
| Aagenaes syndrome |
N/A |
N/A |
No information
|
| Absence of gluteal muscle |
N/A |
N/A |
No information
|
| Aicardi-Goutieres syndrome 1 |
N/A |
N/A |
No information
|
| Aicardi-Goutieres syndrome 2 |
N/A |
N/A |
No information
|
| Aicardi-Goutieres syndrome 3 |
N/A |
N/A |
No information
|
| Aicardi syndrome |
N/A |
N/A |
rare
|
| Aicardi-Goutieres syndrome 4 |
N/A |
N/A |
No information
|
| Pseudo-torch syndrome |
N/A |
N/A |
No information
|
| Aicardi-Goutieres syndrome |
N/A |
N/A |
No information
|
| Aicardi-Goutieres syndrome 5 |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type V |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type X |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, 6B |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, hypermobile type |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 1A |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 1B |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, hypermobility type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, progeroid form 2 |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type II |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, arthrochalasic type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type VIII |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type VI |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type IV |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type IX |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, vascular type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, dermatospraxis type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, kyphoscoliosis type |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta Type I |
N/A |
N/A |
3-4 per 100,000 people are affected by osteogenesis imperfecta type I worldwide, Genetics Home Reference website
|
| Ehlers-Danlos syndrome, tenascin-X deficiency |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, cardiac valvular form |
N/A |
N/A |
No information
|
| Opitz syndrome |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type III |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, classic type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome Type I |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, X-linked |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, VIIB |
N/A |
N/A |
No information
|
| Ehlers-Danlos Syndrome, Dysfibronectinemic type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome with Platelet Dysfunction from Fibronectin Abnormality |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type VII |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome caused by tenascin-X deficiency |
N/A |
N/A |
No information
|
| Ehlers Danlos syndrome type 4, autosomal dominant |
N/A |
N/A |
No information
|
| Ehlers-Danlos, syndrome, periodontitis type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type 3 |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type 4 |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, dermatosparaxis type |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease -- deafness |
N/A |
N/A |
No information
|
| Charcot disease |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2K |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease with ptosis and parkinsonism |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth type 1 aplasia cutis congenital |
N/A |
N/A |
No information
|
| Torsion dystonia 7 |
N/A |
N/A |
No information
|
| Primary open angle glaucoma juvenile onset 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2AI |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 3 |
N/A |
N/A |
No information
|
| Spastic paraplegia type 1, X-linked |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease deafness recessive type |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2F |
N/A |
N/A |
No information
|
| Autosomal Dominant Charcot-Marie-Tooth with hearing loss |
N/A |
N/A |
No information
|
| Spastic Paraplegia 18, Autosomal Recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 11, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 23 |
N/A |
N/A |
No information
|
| Spastic paraplegia 17 |
N/A |
N/A |
No information
|
| Spastic paraplegia 20, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 14, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 15, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 25, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 26, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 16, X-linked |
N/A |
N/A |
No information
|
| Complex 5 mitochondrial respiratory chain deficiency |
N/A |
N/A |
No information
|
| Spastic paraplegia 10, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 12, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 13, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 19, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 29, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 7, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 39, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 31, autosomal dominant |
N/A |
N/A |
No information
|
| Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy |
N/A |
N/A |
No information
|
| Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type |
N/A |
N/A |
No information
|
| Complex 4 mitochondrial respiratory chain deficiency |
N/A |
N/A |
No information
|
| Complex 1 mitochondrial respiratory chain deficiency |
N/A |
N/A |
No information
|
| Complex 2 mitochondrial respiratory chain deficiency |
N/A |
N/A |
No information
|
| Berardinelli-Seip congenital lipodystrophy |
N/A |
N/A |
No information
|
| Berardinelli-Seip congenital lipodystrophy, type 1 |
N/A |
N/A |
No information
|
| Berardinelli-Seip congenital lipodystrophy, type 2 |
N/A |
N/A |
No information
|
| MRXS9 |
N/A |
N/A |
No information
|
| MRXS-Christianson |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, syndromic type 11 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Martinez type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Wittner type |
N/A |
N/A |
No information
|
| Mental retardation X-linked syndromic 7 |
N/A |
N/A |
No information
|
| Mental retardation progressive spasticity, X-linked |
N/A |
N/A |
No information
|
| Maple syrup urine disease, type 1B |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 7 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 8 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, 9 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 2, juvenile |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 4, juvenile |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, type 6 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 1 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 2 |
N/A |
N/A |
familial amyotrophic lateral sclerosis type 2 has been reported in only a few families, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis, familial type 3 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 4 |
N/A |
N/A |
familial amyotrophic lateral sclerosis type 4 has been reported in only a few families, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis, familial type 5 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 6 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 7 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis, familial type 8 |
N/A |
N/A |
familial amyotrophic lateral sclerosis type 4 has been reported in only a few families, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis, familial |
N/A |
N/A |
10% of all cases of amyotrophic lateral sclerosis are familial, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis type 1 |
N/A |
N/A |
3% of sporadic cases of amyotrophic lateral sclerosis are type 1, Genetics Home Reference website
|
| Amyotrophic lateral sclerosis 3 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 5 |
N/A |
N/A |
No information
|
| Amyotrophic lateral sclerosis 6 |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, Type VI |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta -- congenital joint contractures |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 2 |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 3 |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 4 |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 5 |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, type 6 |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta, Levin type |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta type IIII |
N/A |
N/A |
1-2 per 100,000 people are affected by osteogenesis imperfecta type IIII worldwide, Genetics Home Reference website
|
| Osteogenesis imperfecta type II |
N/A |
N/A |
1-2 per 100,000 people are affected by osteogenesis imperfecta type II worldwide, Genetics Home Reference website
|
| Osteogenesis imperfecta type IV |
N/A |
N/A |
3-4 per 100,000 people are affected by osteogenesis imperfecta type IV worldwide, Genetics Home Reference website
|
| Osteogenesis imperfecta, type 7 |
N/A |
N/A |
No information
|
| Usher syndrome, type 1C |
N/A |
N/A |
No information
|
| Usher syndrome, type 2B |
N/A |
N/A |
No information
|
| Usher syndrome, type 1B |
N/A |
N/A |
No information
|
| Usher syndrome, type 2A |
N/A |
N/A |
No information
|
| Usher syndrome, type 1D |
N/A |
N/A |
No information
|
| Usher syndrome, type 2C |
N/A |
N/A |
No information
|
| Usher syndrome, type 1E |
N/A |
N/A |
No information
|
| Usher syndrome, type 1F |
N/A |
N/A |
No information
|
| Usher syndrome, type IIA |
N/A |
N/A |
No information
|
| Usher syndrome, type IIB |
N/A |
N/A |
No information
|
| Usher syndrome, type IIC |
N/A |
N/A |
No information
|
| Usher syndrome, type 1G |
N/A |
N/A |
No information
|
| Usher syndrome, type IIIA |
N/A |
N/A |
No information
|
| Usher syndrome, type IIIB |
N/A |
N/A |
No information
|
| Usher Syndrome 1H |
N/A |
N/A |
No information
|
| Usher Syndrome Type 1 |
N/A |
N/A |
more than 4 per 100,000 people suffer from Usher syndrome type I, Genetics Home Reference website
|
| Usher Syndrome Type 2 |
N/A |
N/A |
No information
|
| Usher Syndrome Type 3 |
N/A |
N/A |
No information
|
| Glucose-6-phosphate deficiency |
N/A |
N/A |
No information
|
| Osler's disease |
N/A |
N/A |
No information
|
| Familial emphysema |
N/A |
N/A |
70,000 Americans
|
| Bardet-Biedl syndrome, type 9 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 8 |
N/A |
N/A |
No information
|
| Bardet-Biedl Syndrome |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 10 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 11 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 12 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 1 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 2 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 3 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 4 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 5 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 7 |
N/A |
N/A |
No information
|
| Bardet-Biedl syndrome, type 6 |
N/A |
N/A |
No information
|
| MODY syndrome |
N/A |
N/A |
No information
|
| MODY syndrome, type VIII |
N/A |
N/A |
No information
|
| MODY syndrome, type VI |
N/A |
N/A |
No information
|
| MODY syndrome, type IV |
N/A |
N/A |
No information
|
| MODY syndrome, type 1 |
N/A |
N/A |
No information
|
| MODY syndrome, type 2 |
N/A |
N/A |
No information
|
| MODY syndrome, type III |
N/A |
N/A |
No information
|
| MODY syndrome, type VII |
N/A |
N/A |
No information
|
| MODY syndrome, type V |
N/A |
N/A |
No information
|
| Tooth Agenesis, Selective, X-Linked, 1 |
N/A |
N/A |
No information
|
| Tooth Agenesis, Selective, 6 |
N/A |
N/A |
No information
|
| Tooth Agenesis, Selective, 5 |
N/A |
N/A |
No information
|
| Tooth Agenesis, Selective, 4 |
N/A |
N/A |
No information
|
| Tooth Agenesis, Selective, 3 |
N/A |
N/A |
No information
|
| Tooth Agenesis, Selective, 2 |
N/A |
N/A |
No information
|
| Tooth Agenesis, Selective, 1 |
N/A |
N/A |
No information
|
| Hydroa vacciniforme, familial |
N/A |
N/A |
No information
|
| Glutaricaciduria type 1 |
N/A |
N/A |
No information
|
| Glutaric aciduria 1 |
N/A |
N/A |
No information
|
| Acyl-CoA dehydrogenase, very long chain, deficiency of |
N/A |
N/A |
No information
|
| Acyl-CoA dehydrogenase, short chain, deficiency of |
N/A |
N/A |
No information
|
| Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD) |
N/A |
N/A |
No information
|
| Glycogen storage disease type 2B -- formerly |
N/A |
N/A |
No information
|
| Pseudoglycogenosis II |
N/A |
N/A |
No information
|
| Glycogen Storage Disease IIb -- formerly |
N/A |
N/A |
No information
|
| GSD2B -- formerly |
N/A |
N/A |
No information
|
| GSD IIB -- formerly |
N/A |
N/A |
No information
|
| Glycogen Storage Disease IXb |
N/A |
N/A |
No information
|
| Glycogen Storage Disease IXa1 |
N/A |
N/A |
No information
|
| Glycogen Storage Disease IXc |
N/A |
N/A |
No information
|
| Type II Glycogen Storage Disease |
N/A |
N/A |
No information
|
| Glycogen storage diseases |
N/A |
N/A |
No information
|
| Glycogen storage disease type 2 |
N/A |
N/A |
No information
|
| Glycogen storage disease type 6A, due to phosphorylase kinase deficiency |
N/A |
N/A |
No information
|
| Sanfilippo syndrome type A |
N/A |
N/A |
No information
|
| Sanfilippo syndrome type B |
N/A |
N/A |
No information
|
| Glycogen storage disease type 6 |
N/A |
N/A |
No information
|
| Glycogen storage disease type 7 |
N/A |
N/A |
No information
|
| Glycogen storage disease type 1C |
N/A |
N/A |
No information
|
| Glycogen storage disease type 2B |
N/A |
N/A |
No information
|
| Glycogen storage disease type 1D |
N/A |
N/A |
No information
|
| Glycogen Storage Disease XIV |
N/A |
N/A |
No information
|
| Bartter Syndrome type 4 |
N/A |
N/A |
No information
|
| Bartter Syndrome type 4A |
N/A |
N/A |
No information
|
| Bartter Syndrome type 4B |
N/A |
N/A |
No information
|
| Bartter Syndrome |
N/A |
N/A |
No information
|
| Bartter's syndrome, antenatal type 1 |
N/A |
N/A |
No information
|
| Bartters syndrome, antenatal , type 2 |
N/A |
N/A |
No information
|
| Bartter's syndrome, type 3 |
N/A |
N/A |
No information
|
| Gaucher disease type 1 |
N/A |
N/A |
1 per 500 - 1,000 people of Ashkenazi Jewish heritage are affected by type 1 Gaucher disease, Genetics Home Reference website
|
| Gaucher disease type 2 |
N/A |
N/A |
less than 1 per 500,000 births are affected by Gaucher disease type 2, Genetics Home Reference website
|
| Gaucher disease type 3 |
N/A |
N/A |
less than 1 per 100,000 births are affected by Gaucher disease type 3, Genetics Home Reference website
|
| Spinocerebellar ataxia 3 |
N/A |
N/A |
No information
|
| Chromosome Y deletion |
N/A |
N/A |
No information
|
| Partial deletion of Y |
N/A |
N/A |
No information
|
| Microdeletion 3q29 |
N/A |
N/A |
No information
|
| Deletion 2q24 |
N/A |
N/A |
No information
|
| $2p21 deletion syndrome$ |
N/A |
N/A |
No information
|
| Monosomy 8q12 21 |
N/A |
N/A |
No information
|
| Chromosome 15q26-qter Deletion Syndrome |
N/A |
N/A |
No information
|
| Deletion 6q16 q21 |
N/A |
N/A |
No information
|
| Monosomy 8q21 q22 |
N/A |
N/A |
No information
|
| Uniparental disomy |
N/A |
N/A |
No information
|
| Tetrasomy X |
N/A |
N/A |
No information
|
| Uniparental disomy of 2 |
N/A |
N/A |
No information
|
| Uniparental disomy of 6 |
N/A |
N/A |
No information
|
| Uniparental disomy of 11 |
N/A |
N/A |
No information
|
| Uniparental disomy 13 |
N/A |
N/A |
No information
|
| Trisomy 8 mosaicism |
N/A |
N/A |
No information
|
| Trisomy conditions |
N/A |
N/A |
No information
|
| Trisomy 22 |
N/A |
N/A |
No information
|
| Distal Trisomy 11q |
N/A |
N/A |
No information
|
| Trisomy 18 Syndrome |
N/A |
N/A |
No information
|
| Complete Trisomy 18 syndrome |
N/A |
N/A |
No information
|
| Partial Trisomy 18 Syndrome |
N/A |
N/A |
No information
|
| $11q Partial Trisomy$ |
N/A |
N/A |
No information
|
| Duplication 6q, partial |
N/A |
N/A |
No information
|
| Distal trisomy 6q |
N/A |
N/A |
No information
|
| Proximal 19q trisomy |
N/A |
N/A |
No information
|
| Trisomy 6 |
N/A |
N/A |
No information
|
| Trisomy 18 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 19 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 20 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 22 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 13 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 21 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 12 mosaicism |
N/A |
N/A |
No information
|
| Chromosome 7, Partial Deletion of Short Arm |
N/A |
N/A |
No information
|
| Partial 7p Monosomy |
N/A |
N/A |
No information
|
| Chromosome 5, Trisomy 5p |
N/A |
N/A |
No information
|
| Trisomy 1 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 2 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 3 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 4 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 10 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 7 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 6 mosaicism |
N/A |
N/A |
No information
|
| Trisomy 5 mosaicism |
N/A |
N/A |
No information
|
| Chromosome 9p tetrasomy syndrome |
N/A |
N/A |
No information
|
| Chromosome partial trisomy 22q11q13 |
N/A |
N/A |
No information
|
| Y chromosome deletions |
N/A |
N/A |
No information
|
| Trisomy 11 mosaicism |
N/A |
N/A |
No information
|
| Y chromosome pericentric inversion |
N/A |
N/A |
No information
|
| Pseudotrisomy 13 syndrome |
N/A |
N/A |
No information
|
| Chromosome 18p minus syndrome |
N/A |
N/A |
No information
|
| Chromosome 9p deletion syndrome |
N/A |
N/A |
No information
|
| Partial Trisomy 3pter |
N/A |
N/A |
No information
|
| Chromosome 1, Terminal deletion |
N/A |
N/A |
No information
|
| Chromosome 1, proximal deletion |
N/A |
N/A |
No information
|
| Chromosome 1, Partial Trisomy |
N/A |
N/A |
No information
|
| Chromosome 12, Isochromosome 12p Mosaic |
N/A |
N/A |
No information
|
| Chromosome 9, Trisomy 9p (Multiple Variants) |
N/A |
N/A |
No information
|
| Chromosome 1q21.1 Deletion Syndrome |
N/A |
N/A |
No information
|
| Chromosome 1q21.1 Duplication Syndrome |
N/A |
N/A |
No information
|
| Chromosome 2p16.1-p15 Deletion Syndrome |
N/A |
N/A |
No information
|
| Deletion of the Short Arm of Chromosome 1 |
N/A |
N/A |
No information
|
| Chromosome 10, Monosomy 10p |
N/A |
N/A |
No information
|
| Chromosome 4, Monosomy Distal 4q |
N/A |
N/A |
No information
|
| Chromosome 13 trisomy syndrome |
N/A |
N/A |
estimated 1 per 10,000 newborns are affected by Trisomy 13, Genetics Home Reference website
|
| Chromosome 2p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 22q deletion |
N/A |
N/A |
No information
|
| Chromosome 9, Tetrasomy 9p |
N/A |
N/A |
No information
|
| Chromosome 12p tetrasomy syndrome |
N/A |
N/A |
No information
|
| Chromosome 5, monosomy 5q35 |
N/A |
N/A |
No information
|
| Chromosome 1, q42 11 q42 12 duplication |
N/A |
N/A |
No information
|
| Chromosome 15, trisomy mosaicism |
N/A |
N/A |
No information
|
| Chromosome 18, deletion 18q23 |
N/A |
N/A |
No information
|
| Chromosome 14q, terminal deletion |
N/A |
N/A |
No information
|
| Chromosome 10p terminal deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 16, uniparental disomy |
N/A |
N/A |
No information
|
| $46,XX chromosome 7 deletion p13$ |
N/A |
N/A |
No information
|
| Chromosome 7 deletion p21-p22.1 |
N/A |
N/A |
No information
|
| Chromosome 3q29 microduplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 15q13.3 microdeletion syndrome |
N/A |
N/A |
No information
|
| $46,XY chromosome 7 deletion p13-p21$ |
N/A |
N/A |
No information
|
| $46,XX chromosome 7 deletion p13-p21$ |
N/A |
N/A |
No information
|
| Chromosome 7, deletion 7q2 |
N/A |
N/A |
No information
|
| Deletion 10q |
N/A |
N/A |
No information
|
| Chromosome 7 deletion p15.1-p21.1 |
N/A |
N/A |
No information
|
| Chromosome 7 deletion p22.2-p22.1 |
N/A |
N/A |
No information
|
| $46,XY chromosome 7 deletion p14-p14$ |
N/A |
N/A |
No information
|
| Monosomy 1p36 |
N/A |
N/A |
No information
|
| Chromosome 11, Partial Trisomy 11q |
N/A |
N/A |
No information
|
| Chromosome 7, partial monosomy 7p |
N/A |
N/A |
No information
|
| Chromosome 6, partial trisomy 6q |
N/A |
N/A |
No information
|
| Duplication 5p |
N/A |
N/A |
No information
|
| Chromosome 14q, terminal duplication |
N/A |
N/A |
No information
|
| Chromosome 17, trisomy 17p11.2 |
N/A |
N/A |
No information
|
| Chromosome 21, uniparental disomy of |
N/A |
N/A |
No information
|
| $8p-Syndrome, partial$ |
N/A |
N/A |
No information
|
| Chromosome 10 ring |
N/A |
N/A |
No information
|
| Chromosome 8, Monosomy 8p21-pter |
N/A |
N/A |
No information
|
| $7p2 Monosomy Syndrome$ |
N/A |
N/A |
No information
|
| Chromosome 7, terminal 7p deletion |
N/A |
N/A |
No information
|
| Chromosome 3, monosomy 3q21-23 |
N/A |
N/A |
No information
|
| Chromosome 21, monosomy 21q22 |
N/A |
N/A |
No information
|
| Chromosome 3, Trisomy 3q2 |
N/A |
N/A |
No information
|
| Chromosome 8, monosomy 8p23.1 |
N/A |
N/A |
No information
|
| Chromosome 1, 1p36 deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 7, monosomy 7q21 |
N/A |
N/A |
No information
|
| Chromosome 7q partial deletion |
N/A |
N/A |
No information
|
| Chromosome 14, deletion 14q, partial duplication 14p |
N/A |
N/A |
No information
|
| Chromosome 3/B translocation |
N/A |
N/A |
No information
|
| Chromosome 7, Monosomy 7p2 |
N/A |
N/A |
No information
|
| Chromosome 4, Monosomy 4q |
N/A |
N/A |
No information
|
| Chromosome 9 Ring |
N/A |
N/A |
No information
|
| Chromosome 18 Ring |
N/A |
N/A |
No information
|
| Chromosome 18q- Syndrome |
N/A |
N/A |
No information
|
| Chromosome 9, Partial Monosomy 9p |
N/A |
N/A |
No information
|
| Chromosome 15 Ring |
N/A |
N/A |
No information
|
| Chromosome 14 Ring |
N/A |
N/A |
No information
|
| Chromosome 8, Monosomy 8p2 |
N/A |
N/A |
No information
|
| Chromosome 22 monosomy syndrome |
N/A |
N/A |
No information
|
| Chromosome 6p partial duplication |
N/A |
N/A |
No information
|
| Chromosome 15q tetrasomy syndrome |
N/A |
N/A |
No information
|
| Chromosome 4p15-16 deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 1p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 8 recombinant syndrome |
N/A |
N/A |
No information
|
| Chromosome 4p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 6p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 5q deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 7p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 6q deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 8p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 8q deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 1(q12q22) duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 9q deletion syndrome |
N/A |
N/A |
No information
|
| $14q+ syndrome$ |
N/A |
N/A |
No information
|
| Chromosome 17, deletion 17q23 q24 |
N/A |
N/A |
No information
|
| Chromosome 15q, deletion |
N/A |
N/A |
No information
|
| Chromosome 20p, partial duplication |
N/A |
N/A |
No information
|
| Chromosome 11p partial duplication |
N/A |
N/A |
No information
|
| Chromosome 16p, partial duplication |
N/A |
N/A |
No information
|
| Chromosome 2 trisomy syndrome |
N/A |
N/A |
No information
|
| Chromosome 17p, partial duplication |
N/A |
N/A |
No information
|
| Chromosome 16q, partial duplication |
N/A |
N/A |
No information
|
| $2q22-q24 deletion$ |
N/A |
N/A |
No information
|
| Triploid syndrome |
N/A |
N/A |
No information
|
| Chromosome 17q, partial duplication |
N/A |
N/A |
No information
|
| Chromosome 15 inverted duplication |
N/A |
N/A |
No information
|
| Chromosome 19q, partial duplication |
N/A |
N/A |
No information
|
| Chromosome 9 trisomy syndrome |
N/A |
N/A |
No information
|
| Chromosome 8 trisomy syndrome |
N/A |
N/A |
No information
|
| Chromosome 10p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 20p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 21, tetrasomy 21q |
N/A |
N/A |
No information
|
| Chromosome 20, trisomy |
N/A |
N/A |
No information
|
| Chromosome 12p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 21q deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 12 trisomy |
N/A |
N/A |
No information
|
| Chromosome 22, trisomy |
N/A |
N/A |
No information
|
| Chromosome 22q deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 13q deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 14q deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 15 trisomy |
N/A |
N/A |
No information
|
| Chromosome 22 trisomy mosaic |
N/A |
N/A |
No information
|
| Chromosome 10, distal trisomy 10q |
N/A |
N/A |
No information
|
| Chromosome 15q, partial duplication (distal q arm) |
N/A |
N/A |
No information
|
| Chromosome 3, monosomy 3p |
N/A |
N/A |
No information
|
| Chromosome 18, trisomy 18q |
N/A |
N/A |
No information
|
| Chromosome 9/mosaic |
N/A |
N/A |
No information
|
| Chromosome 22 suprenumerary marker |
N/A |
N/A |
No information
|
| Chromosome 15, distal trisomy 15q |
N/A |
N/A |
No information
|
| Chromosome 15q triplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 9, monosomy 9p |
N/A |
N/A |
No information
|
| Chromosome 14 trisomy syndrome |
N/A |
N/A |
No information
|
| Chromosome 14 uniparental disomy syndrome |
N/A |
N/A |
No information
|
| Chromosome 4 ring syndrome |
N/A |
N/A |
No information
|
| Chromosome 4p15 deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 6 ring syndrome |
N/A |
N/A |
No information
|
| Chromosome 7 ring syndrome |
N/A |
N/A |
No information
|
| Chromosome 20 ring |
N/A |
N/A |
No information
|
| Chromosome 22q13 deletion |
N/A |
N/A |
No information
|
| Chromosome 1p duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 2p duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 1q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 17 ring |
N/A |
N/A |
No information
|
| Chromosome 2q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 9q duplication/chromosome 9p deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 8p mosaic tetrasomy |
N/A |
N/A |
No information
|
| Chromosome 5p duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 4q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 5q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 7p duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 6q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 8p duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 7q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 8q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 9q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 11q partial deletion |
N/A |
N/A |
No information
|
| Chromosome 21q, partial deletion |
N/A |
N/A |
No information
|
| Chromosome 13q partial deletion |
N/A |
N/A |
No information
|
| Chromosome 14q, partial deletion |
N/A |
N/A |
No information
|
| Chromosome 15q, partial deletion |
N/A |
N/A |
No information
|
| Chromosome 17p, partial deletion |
N/A |
N/A |
No information
|
| Chromosome 16q, partial deletion |
N/A |
N/A |
No information
|
| Chromosome 18q, partial deletion |
N/A |
N/A |
No information
|
| Chromosome 8p inverted duplication syndrome |
N/A |
N/A |
No information
|
| $1q deletion$ |
N/A |
N/A |
No information
|
| $2q deletion$ |
N/A |
N/A |
No information
|
| $3q deletion$ |
N/A |
N/A |
No information
|
| Chromosome 10 ring syndrome |
N/A |
N/A |
No information
|
| Dup (5)(q11-q22) |
N/A |
N/A |
No information
|
| Chromosome 12 ring syndrome |
N/A |
N/A |
No information
|
| Chromosome 13 ring syndrome |
N/A |
N/A |
No information
|
| Chromosome 5p tetrasomy syndrome |
N/A |
N/A |
No information
|
| Dup (5)(q22-q23) |
N/A |
N/A |
No information
|
| $18p minus syndrome$ |
N/A |
N/A |
No information
|
| Chromosome 18 deletion syndrome |
N/A |
N/A |
No information
|
| Chromosome 21 monosomy |
N/A |
N/A |
No information
|
| Chromosome 19 ring syndrome |
N/A |
N/A |
No information
|
| Chromosome 22, monosomy mosaic |
N/A |
N/A |
No information
|
| $1q terminal deletion$ |
N/A |
N/A |
No information
|
| Chromosome 15q, partial duplication (unbalanced translocation) |
N/A |
N/A |
No information
|
| Chromosome 10p duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 3, trisomy 3p |
N/A |
N/A |
No information
|
| Chromosome 20q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 12p duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 11q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 3, trisomy 3q |
N/A |
N/A |
No information
|
| Chromosome 12q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 4, trisomy 4p |
N/A |
N/A |
No information
|
| Chromosome 22q duplication syndrome |
N/A |
N/A |
No information
|
| Chromosome 13q duplication syndrome |
N/A |
N/A |
No information
|
| Dup (5)(q33-qter) |
N/A |
N/A |
No information
|
| Chromosome 18, trisomy 18p |
N/A |
N/A |
No information
|
| Uniparental disomy, paternal, chromosome 14 |
N/A |
N/A |
No information
|
| Chromosome 19p duplication syndrome |
N/A |
N/A |
No information
|
| X chromosome, trisomy Xq25 |
N/A |
N/A |
No information
|
| X chromosome, duplication Xq13 1 q21 1 |
N/A |
N/A |
No information
|
| X chromosome, trisomy 26-28 |
N/A |
N/A |
No information
|
| X chromosome, trisomy Xq |
N/A |
N/A |
No information
|
| X chromosome, monosomy Xq28 |
N/A |
N/A |
No information
|
| X chromosome, monosomy Xp22 pter |
N/A |
N/A |
No information
|
| X chromosome, trisomy Xpter Xq13 |
N/A |
N/A |
No information
|
| X chromosome, trisomy Xp3 |
N/A |
N/A |
No information
|
| Chromosome conditions |
N/A |
N/A |
No information
|
| Chromosome deletion syndromes |
N/A |
N/A |
No information
|
| Autosomal chromosome conditions |
N/A |
N/A |
No information
|
| Imprinted chromosome conditions |
N/A |
N/A |
No information
|
| Chromosome 1 ring |
N/A |
N/A |
No information
|
| Ring D2 chromosome |
N/A |
N/A |
No information
|
| Translocation Chromosome Disorders |
N/A |
N/A |
No information
|
| Ring chromosome r(2) |
N/A |
N/A |
No information
|
| Chromosome 1, duplication 1p21 p32 |
N/A |
N/A |
No information
|
| Chromosome 8 ring |
N/A |
N/A |
No information
|
| Chromosome 1, monosomy 1q4 |
N/A |
N/A |
No information
|
| Chromosome 3, trisomy 3q13 2 q25 |
N/A |
N/A |
No information
|
| Chromosome 7, trisomy 7p13 p12 2 |
N/A |
N/A |
No information
|
| Chromosome 13p duplication |
N/A |
N/A |
No information
|
| Chromosome 5, trisomy 5pter p13 3 |
N/A |
N/A |
No information
|
| $47 XYY syndrome$ |
N/A |
N/A |
1 per 1,000 males are born with 47,XYY syndrome, Genetics Home Reference website
|
| $49,XXXXX syndrome$ |
N/A |
N/A |
No information
|
| $49,XXXXY syndrome$ |
N/A |
N/A |
No information
|
| $47,XXX syndrome$ |
N/A |
N/A |
No information
|
| XX male syndrome |
N/A |
N/A |
No information
|
| Gonadal dysgenesis, XX type |
N/A |
N/A |
No information
|
| $46,XX Gonadal dysgenesis epibulbar dermoid$ |
N/A |
N/A |
No information
|
| Gonadal dysgenesis XY type associated anomalies |
N/A |
N/A |
No information
|
| $46,XY Gonadal Dysgenesis, Complete, SRY-Related$ |
N/A |
N/A |
No information
|
| XY female |
N/A |
N/A |
No information
|
| Klippel-Feil syndrome recessive type |
N/A |
N/A |
No information
|
| Klippel-Feil syndrome, dominant type |
N/A |
N/A |
No information
|
| Frontonasal dysplasia -- Klippel Feil syndrome |
N/A |
N/A |
No information
|
| Klippel Feil Syndrome |
N/A |
N/A |
rare
|
| Klippel Feil deformity conductive deafness absent vagina |
N/A |
N/A |
No information
|
| Christmas disease |
N/A |
N/A |
No information
|
| Hemophilia A |
N/A |
N/A |
No information
|
| Hemophilia B |
N/A |
N/A |
No information
|
| Sex chromosome conditions |
N/A |
N/A |
No information
|
| Triple-X syndrome |
N/A |
N/A |
1 per 1,000 newborn girls suffer from triple X syndrome, Genetics Home Reference website
|
| The Hemophilias |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 10 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 11 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 6 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 48 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 49 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 1 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 9 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 2 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 3 |
N/A |
N/A |
No information
|
| Parkinson disease, juvenile, autosomal recessive |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 5 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 6 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 7 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 8 |
N/A |
N/A |
No information
|
| Microcephaly -- chorioretinopathy, recessive form |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 9 |
N/A |
N/A |
No information
|
| Familial Wilms tumor 2 |
N/A |
N/A |
No information
|
| Split hand/split foot malformation, autosomal recessive |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 20 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 12 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 30 |
N/A |
N/A |
No information
|
| Torticollis, familial |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 42 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 43 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 52 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 16 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 53 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 10 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 59 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 77 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 16 |
N/A |
N/A |
No information
|
| Retinal dysplasia, X-linked |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 36 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 27 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 18 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 37 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 28 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 46 |
N/A |
N/A |
No information
|
| Hypertensive hypokalemia familial |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 67 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 49 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Brunner type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Seemanova type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Shrimpton type |
N/A |
N/A |
No information
|
| Deafness progressive cataract autosomal dominant |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- hypogammaglobulinemia -- progressive neurological deterioration |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- hypogonadism -- ichthyosis -- obesity -- short stature |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- hypotonia -- facial dysmorphism -- aggressive behavior |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- hypotonic face |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Pai type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Cabezas type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Cantagrel type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- choreoathesis -- abnormal behavior |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- corpus callosum agenesis -- spastic quadriparesis |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- cubitus valgus -- typical face |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- epilepsy -- progressive joint contractures -- typical face |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- acromegaly -- hyperactivity |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- gynecomastia -- obesity |
N/A |
N/A |
No information
|
| Mental retardation, X linked -- precocious puberty -- obesity |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Raynaud type |
N/A |
N/A |
No information
|
| Mental retardation, X-linked recessive -- macrocephaly -- ciliary dysfunction |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 21 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 94 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- craniofacial dysmorphology -- epilepsy -- ophthalmoplegia -- cerebellar atrophy |
N/A |
N/A |
No information
|
| Myoclonic progressive familial epilepsy |
N/A |
N/A |
No information
|
| Parkinson disease, familial, Type 1 |
N/A |
N/A |
No information
|
| Nose polyposis, familial |
N/A |
N/A |
No information
|
| Deafness, X-linked, DFN |
N/A |
N/A |
No information
|
| Deafness, neurosensory nonsyndromic recessive, DFN |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 59 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 68 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 1 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 2 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 3 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 6 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 7 |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 8 |
N/A |
N/A |
No information
|
| Parkinson disease 6, autosomal recessive, recessive early-onset |
N/A |
N/A |
No information
|
| Pyruvate kinase deficiency, muscle type |
N/A |
N/A |
No information
|
| Alzheimer disease, familial, 1 |
N/A |
N/A |
No information
|
| Hypospadias 1, X-linked |
N/A |
N/A |
No information
|
| Hypospadias 2, X-linked |
N/A |
N/A |
No information
|
| Hypospadias 3, Autosomal |
N/A |
N/A |
No information
|
| Myopathy, Distal 3 |
N/A |
N/A |
No information
|
| Myopathy, Distal 2 |
N/A |
N/A |
No information
|
| Distal Myopathy 1 |
N/A |
N/A |
No information
|
| Dystonia 6, torsion |
N/A |
N/A |
No information
|
| Hypospadias familial |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 2 |
N/A |
N/A |
No information
|
| X-linked alpha thalassemia mental retardation syndrome (ATR-X) |
N/A |
N/A |
No information
|
| Abidi X-linked mental retardation syndrome |
N/A |
N/A |
No information
|
| X-linked mental retardation type Wittner |
N/A |
N/A |
No information
|
| X-linked mental retardation type Gustavson |
N/A |
N/A |
No information
|
| X-linked mental retardation craniofacial abnormal microcepahly club |
N/A |
N/A |
No information
|
| X-linked mental retardation associated with marXq2 |
N/A |
N/A |
No information
|
| X-linked mental retardation Brooks type |
N/A |
N/A |
No information
|
| X-linked mental retardation type Schutz |
N/A |
N/A |
No information
|
| X-linked mental retardation Hamel type |
N/A |
N/A |
No information
|
| X-linked mental retardation de silva type |
N/A |
N/A |
No information
|
| X-linked mental retardation type Raynaud |
N/A |
N/A |
No information
|
| Brachydactyly -- mesomelia -- mental retardation -- heart defects |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- hypotonia -- recurrent Infections |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, Siderius type |
N/A |
N/A |
No information
|
| Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity |
N/A |
N/A |
No information
|
| Mental retardation, X-linked syndromic 12 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked syndromic 14 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked with brachydactyly and macroglossia |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 17 |
N/A |
N/A |
No information
|
| Factor XIII deficiency, congenital |
N/A |
N/A |
No information
|
| Factor XIII Deficiency |
N/A |
N/A |
No information
|
| Factor XIII, A1 subunit Deficiency |
N/A |
N/A |
No information
|
| Factor XIII, B subunit Deficiency |
N/A |
N/A |
No information
|
| Factor V and factor VIII, combined deficiency of |
N/A |
N/A |
No information
|
| Hageman factor deficiency |
N/A |
N/A |
No information
|
| Stuart factor deficiency, acquired |
N/A |
N/A |
No information
|
| Stuart factor deficiency, congenital |
N/A |
N/A |
No information
|
| Factor V deficiency |
N/A |
N/A |
No information
|
| Factor 8 deficiency, congenital |
N/A |
N/A |
No information
|
| Factor XI deficiency, congenital |
N/A |
N/A |
No information
|
| Factor V Quebec |
N/A |
N/A |
No information
|
| Factor XII Deficiency |
N/A |
N/A |
No information
|
| Factor IX Deficiency |
N/A |
N/A |
No information
|
| Factor V Leiden mutation |
N/A |
N/A |
No information
|
| Klippel Trenaunay Weber syndrome |
N/A |
N/A |
No information
|
| Klippel-Trenaunay Syndrome |
N/A |
N/A |
No information
|
| Abruzzo Erickson syndrome |
N/A |
N/A |
No information
|
| Triose phosphate-isomerase deficiency |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy |
N/A |
N/A |
No information
|
| Deafness, congenital onychodystrophy, recessive form |
N/A |
N/A |
No information
|
| Opticoacoustic nerve atrophy dementia |
N/A |
N/A |
No information
|
| Deafness -- Opticoacoustic nerve atrophy -- dementia |
N/A |
N/A |
No information
|
| Deafness, congenital neurosensory, autosomal recessive 10 |
N/A |
N/A |
No information
|
| Deafness onychodystrophy dominant form |
N/A |
N/A |
No information
|
| Deafness, autosomal dominant nonsyndromic sensorineural 9 |
N/A |
N/A |
No information
|
| Deafness, autosomal recessive 53 |
N/A |
N/A |
No information
|
| Deafness mixed with perilymphatic Gusher, X-linked |
N/A |
N/A |
No information
|
| Mental retardation -- gynecomastia -- obesity, X-linked |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- dystonia -- dysarthria |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 3 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 2 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, 1 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 11 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 10 |
N/A |
N/A |
No information
|
| Split hand/foot malformation X-linked |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, syndromic 11 |
N/A |
N/A |
No information
|
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
N/A |
N/A |
No information
|
| Mental retardation -- hypotonic facies syndrome, X-linked, 1 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 7 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 5 |
N/A |
N/A |
No information
|
| Mental retardation, autosomal recessive, 4 |
N/A |
N/A |
No information
|
| Ataxia, Hereditary, Autosomal Dominant |
N/A |
N/A |
No information
|
| Heterozygous Beta-thalassemia 1 |
N/A |
N/A |
No information
|
| Heterozygous Beta-thalassemia 2 |
N/A |
N/A |
No information
|
| Hydrops fetalis syndrome due to Beta-thalassemia |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 7 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, autosomal recessive 9 |
N/A |
N/A |
No information
|
| Ataxia, spastic, 3, autosomal recessive |
N/A |
N/A |
No information
|
| Chorioretinopathy -- microcephaly, autosomal recessive |
N/A |
N/A |
No information
|
| Unusual facies and autosomal recessive hypohidrotic ectodermal dysplasia |
N/A |
N/A |
No information
|
| Lethal arthrogryposis with anterior horn cell disease |
N/A |
N/A |
No information
|
| Pancreatic carcinoma, familial |
N/A |
N/A |
No information
|
| Fronto-temporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) |
N/A |
N/A |
No information
|
| Premature chromosome condensation with microcephaly and mental retardation |
N/A |
N/A |
No information
|
| Lipoproteine lipase deficiency |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 2 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 3 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 1 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 4 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 7 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 8 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 9 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 10 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 11 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 1 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 12 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 2 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 3 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 4 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 5 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 6 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 7 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 8 |
N/A |
N/A |
No information
|
| Febrile convulsions, familial, 9 |
N/A |
N/A |
No information
|
| Corneal dystrophy, gelatinous drop-like |
N/A |
N/A |
No information
|
| Corneal dystrophy Avellino type |
N/A |
N/A |
No information
|
| Cardiomyopathy, familial dilated |
N/A |
N/A |
No information
|
| Familial dilated cardiomyopathy |
N/A |
N/A |
No information
|
| Alzheimer disease, familial, type 3 |
N/A |
N/A |
No information
|
| Alzheimer disease, familial |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 8 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, 5 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia -- dysmorphism |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia with axonal neuropathy, type 2 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, type 4 |
N/A |
N/A |
No information
|
| Spinocerebellar Ataxia 9 |
N/A |
N/A |
No information
|
| Friedreich's ataxia |
N/A |
N/A |
No information
|
| Spinocerebellar Ataxia |
N/A |
N/A |
No information
|
| Familial Dysbetalipoproteinemia |
N/A |
N/A |
No information
|
| Torsion dystonia, X-linked |
N/A |
N/A |
No information
|
| GM2-gangliosidosis, AB variant |
N/A |
N/A |
only a few cases of GM2-gangliosidosis, AB variant reported worldwide, Genetics Home Reference website
|
| Hereditary spastic paralysis, infantile onset ascending |
N/A |
N/A |
No information
|
| Friedreich ataxia |
N/A |
N/A |
estimated 1 per 40,000 people are affected by Friedreich ataxia, Genetics Home Reference website
|
| Spinal muscular atrophy, Ryukyuan type |
N/A |
N/A |
No information
|
| Familial Lactase Deficiency |
N/A |
N/A |
No information
|
| Congenital lactase deficiency |
N/A |
N/A |
No information
|
| Mycobacterium Tuberculosis, Susceptibility to, X-linked |
N/A |
N/A |
No information
|
| Cerebral Palsy, Ataxic, Autosomal Recessive |
N/A |
N/A |
No information
|
| Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |
N/A |
N/A |
No information
|
| Grasbeck-Imerslund Disease |
N/A |
N/A |
No information
|
| Cobalamin malabsorption, selective, with proteinuria |
N/A |
N/A |
No information
|
| Megaloblasti Anemia, 1 |
N/A |
N/A |
No information
|
| Megaloblastic Anemia, Familial |
N/A |
N/A |
No information
|
| Congenital Vitamin B12 Malabsorption |
N/A |
N/A |
No information
|
| Familial Selective Vitamin B12 Malabsorption |
N/A |
N/A |
No information
|
| Glaucoma -- iridogoniodysgenesia |
N/A |
N/A |
No information
|
| Glaucoma, hereditary |
N/A |
N/A |
No information
|
| Glaucoma 1, open angle, K |
N/A |
N/A |
No information
|
| Methylmalonic acidemia, cobalamin A deficiency |
N/A |
N/A |
No information
|
| Methylmalonic acidemia, Cobalamin B deficiency |
N/A |
N/A |
No information
|
| Methylmalonicaciduria with homocystinuria, cobalamin F |
N/A |
N/A |
No information
|
| Methylcobalamin deficiency, cbl E complementation type |
N/A |
N/A |
No information
|
| Transcobalamin 2 deficiency |
N/A |
N/A |
No information
|
| Methylcobalamin deficiency cbl G type |
N/A |
N/A |
No information
|
| Defect in synthesis of adenosylcobalamin |
N/A |
N/A |
No information
|
| Transcobalamin I deficiency |
N/A |
N/A |
No information
|
| Cobalamin R Binder Protein Deficiency |
N/A |
N/A |
No information
|
| Cobalamin pseudodeficiency due to transcobalamin deficiency |
N/A |
N/A |
No information
|
| Familial Hypercholesterolemia |
N/A |
N/A |
No information
|
| Sickle cell crisis |
N/A |
N/A |
No information
|
| Alpha thalassemia |
N/A |
N/A |
No information
|
| Beta thalassemia |
N/A |
N/A |
No information
|
| Polyploidy |
N/A |
N/A |
No information
|
| Ectodermal dysplasia, hypohidrotic, autosomal recessive |
N/A |
N/A |
No information
|
| Renal-hepatic-pancreatic dysplasia -- Dandy Walker cyst |
N/A |
N/A |
No information
|
| Orofaciodigital syndrome, Shashi type |
N/A |
N/A |
No information
|
| Ovarian insufficiency, familial |
N/A |
N/A |
No information
|
| Hyperinsulinemic hypoglycemia, familial, 1 |
N/A |
N/A |
No information
|
| Hyperinsulinemic hypoglycemia, familial, 2 |
N/A |
N/A |
No information
|
| Hyperinsulinemic hypoglycemia, familial, 3 |
N/A |
N/A |
No information
|
| Hyperinsulinemic hypoglycemia, familial, 4 |
N/A |
N/A |
No information
|
| Hyperinsulinemic hypoglycemia, familial, 5 |
N/A |
N/A |
No information
|
| Hyperinsulinemic hypoglycemia, familial, 7 |
N/A |
N/A |
No information
|
| Hyperinsulinism due to glutamodehydrogenase deficiency |
N/A |
N/A |
No information
|
| Hyperinsulinism in children, congenital |
N/A |
N/A |
No information
|
| Hyperinsulinism due to glucokinase deficiency |
N/A |
N/A |
No information
|
| Hyperinsulinemic hypoglycemia, familial, 6 |
N/A |
N/A |
No information
|
| Hyperinsulinism, focal |
N/A |
N/A |
No information
|
| Familial hyperlipoproteinemia type 1 |
N/A |
N/A |
No information
|
| Familial hyperlipoproteinemia type 3 |
N/A |
N/A |
No information
|
| Adactylia unilateral dominant |
N/A |
N/A |
No information
|
| Hereditary hearing disorder |
N/A |
N/A |
No information
|
| Hereditary koilonychia |
N/A |
N/A |
No information
|
| Hypobetalipoproteinemia, familial |
N/A |
N/A |
No information
|
| Hereditary hearing loss |
N/A |
N/A |
No information
|
| Familial hypertension |
N/A |
N/A |
No information
|
| Familial hyperlipoproteinemia |
N/A |
N/A |
No information
|
| Familial HDL deficiency |
N/A |
N/A |
No information
|
| Heart block progressive, familial |
N/A |
N/A |
No information
|
| Infantile onset spinocerebellar ataxia |
N/A |
N/A |
No information
|
| Juvenile-onset dystonia |
N/A |
N/A |
No information
|
| Chorea familial benign |
N/A |
N/A |
No information
|
| Gangliosidosis GM1 type 3 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, X-linked, 4 |
N/A |
N/A |
No information
|
| GM1 gangliosidosis |
N/A |
N/A |
No information
|
| Gangliosidosis, generalized GM1 type 2 |
N/A |
N/A |
No information
|
| Gangliosidosis, generalized GM1 type 3 |
N/A |
N/A |
No information
|
| Gangliosidosis generalized GM1, type 1 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type IV |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type III |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia 10 |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type II |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia, Machado-Joseph type V |
N/A |
N/A |
No information
|
| Spinocerebellar ataxia -- amyotrophy -- deafness |
N/A |
N/A |
No information
|
| Neuraminidase deficiency |
N/A |
N/A |
No information
|
| Neuraminidase deficiency, type II, juvenile form |
N/A |
N/A |
No information
|
| Werner syndrome |
N/A |
N/A |
1 per 20,000 - 40,000 people suffer from Werner syndrome in Japan, Genetics Home Reference website
|
| Poikiloderma of Rothmund-Thomson |
N/A |
N/A |
No information
|
| Achromatopsia incomplete, X-linked |
N/A |
N/A |
No information
|
| Marinesco-Sjogren syndrome |
N/A |
N/A |
No information
|
| Ventricular tachycardia, catecholaminergic polymorphic, 1 |
N/A |
N/A |
No information
|
| Ventricular tachycardia, catecholaminergic polymorphic, 2 |
N/A |
N/A |
No information
|
| Waardenburg syndrome type 2 |
N/A |
N/A |
No information
|
| Waardenburg syndrome types I |
N/A |
N/A |
No information
|
| Waardenburg syndrome, type 4 |
N/A |
N/A |
No information
|
| Waardenburg syndrome, type 3 |
N/A |
N/A |
No information
|
| Waardenburg syndrome type 2A |
N/A |
N/A |
No information
|
| Waardenburg syndrome type 2B |
N/A |
N/A |
No information
|
| Waardenburg type 1 |
N/A |
N/A |
No information
|
| Waardenburg type pierpont |
N/A |
N/A |
No information
|
| Waardenburg syndrome |
N/A |
N/A |
estimated 1 per 10,000 - 20,000 people suffer from Waardenburg syndrome, Genetics Home Reference website
|
| Waardenburg syndrome type IIA |
N/A |
N/A |
No information
|
| Waardenburg syndrome type IIB |
N/A |
N/A |
No information
|
| Waardenburg syndrome type IIC |
N/A |
N/A |
No information
|
| Waardenburg syndrome type IID |
N/A |
N/A |
No information
|
| Waardenburg syndrome type IIE |
N/A |
N/A |
No information
|
| Waardenburg Syndromes |
N/A |
N/A |
No information
|
| Familial hypersensitivity pneumonitis |
N/A |
N/A |
No information
|
| Hypergonadotropic ovarian failure, familial or sporadic |
N/A |
N/A |
No information
|
| Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and |
N/A |
N/A |
No information
|
| Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct |
N/A |
N/A |
No information
|
| Branchial arch syndrome X-linked |
N/A |
N/A |
No information
|
| Cataract, anterior polar, dominant |
N/A |
N/A |
No information
|
| Cone dystrophy, x-linked, with tapetal-like sheen |
N/A |
N/A |
No information
|
| Cataract, congenital nuclear, autosomal recessive 1 |
N/A |
N/A |
No information
|
| Autosomal recessive nonsyndromic congenital nuclear cataract |
N/A |
N/A |
No information
|
| Cataract, congenital nuclear, autosomal recessive 2 |
N/A |
N/A |
No information
|
| Exudative retinopathy familial, autosomal dominant |
N/A |
N/A |
No information
|
| Cataract, autosomal recessive congenital 3 |
N/A |
N/A |
No information
|
| Opitc atrophy and cataract, autosomal dominant |
N/A |
N/A |
No information
|
| Cataract congenital dominant non nuclear |
N/A |
N/A |
No information
|
| Cataract, autosomal recessive congenital 2 |
N/A |
N/A |
No information
|
| Cataract, congenital, autosomal dominant |
N/A |
N/A |
No information
|
| Chromosomal triplication |
N/A |
N/A |
No information
|
| Hemiplegic migraine, familial type 1 |
N/A |
N/A |
No information
|
| Hemiplegic migraine, familial type 2 |
N/A |
N/A |
No information
|
| Hemiplegic migraine, familial type 3 |
N/A |
N/A |
No information
|
| Hemiplegic migraine, familial type 4 |
N/A |
N/A |
No information
|
| Hemiplegic migraine, familial |
N/A |
N/A |
No information
|
| Late onset dominant cone dystrophy |
N/A |
N/A |
No information
|
| Late onset dominant cone dystrophy with early blue cone involvement |
N/A |
N/A |
No information
|
| Ocular albinism X-linked, recessive |
N/A |
N/A |
No information
|
| Torsion dystonia, autosomal recessive |
N/A |
N/A |
No information
|
| Albinism, ocular, autosomal recessive |
N/A |
N/A |
No information
|
| Chorioretinopathy dominant form -- microcephaly |
N/A |
N/A |
No information
|
| Exudative retinopathy, familial |
N/A |
N/A |
No information
|
| Exudative retinopathy familial, X-linked, recessive |
N/A |
N/A |
No information
|
| Exudative retinopathy familial, autosomal recessive |
N/A |
N/A |
No information
|
| Congenital benign spinal muscular atrophy dominant |
N/A |
N/A |
No information
|
| SPG |
N/A |
N/A |
No information
|
| Corneal Dystrophy, Endothelial, X-Linked |
N/A |
N/A |
No information
|
| Dup (3) (q29-qter) and del (6) (q26-qter) |
N/A |
N/A |
No information
|
| Dup (3) (q27-qter) and dup (14) (pter-q12) |
N/A |
N/A |
No information
|
| Retinoschisis1, X-linked, Juvenile |
N/A |
N/A |
No information
|
| Retinoschisis, autosomal dominant |
N/A |
N/A |
No information
|
| Retinoschisis, Juvenile, X-Linked |
N/A |
N/A |
No information
|
| Congenital X-linked retinoschisis |
N/A |
N/A |
No information
|
| Dysphasic dementia, hereditary |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive, 1 |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive, 2 |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive, 4 |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive, 5 |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive, 6 |
N/A |
N/A |
No information
|
| Homocystinuria |
N/A |
N/A |
at least 1 per 200,000 - 335,000 people are affected by homocystinuria worldwide, Genetics Home Reference website
|
| Homocystinuria syndrome |
N/A |
N/A |
No information
|
| Homocystinuria due to defect in methylation (cbl g) |
N/A |
N/A |
No information
|
| Homocystinuria due to defect in methylation cbl e |
N/A |
N/A |
No information
|
| Homocystinuria due to cystathionine beta-synthase deficiency |
N/A |
N/A |
No information
|
| Galactosemia I |
N/A |
N/A |
1 per 30,000 liver births are affected by inherited galactosemia, Genetics Home Reference website
|
| Acidemia, methylmalonic |
N/A |
N/A |
estimated 1 per 50,000 - 100,000 suffer from Methylmalonic acidemia, Genetics Home Reference website
|
| Carnosinase deficiency |
N/A |
N/A |
No information
|
| Olivopontocerebellar Atrophy, Hereditary |
N/A |
N/A |
No information
|
| Diabetes insipidus, nephrogenic, recessive type |
N/A |
N/A |
No information
|
| Benign familial infantile seizures 1 |
N/A |
N/A |
No information
|
| Benign familial infantile seizures 2 |
N/A |
N/A |
No information
|
| Benign familial neonatal-infantile seizures |
N/A |
N/A |
No information
|
| Seizures, benign familial neonatal-infantile |
N/A |
N/A |
No information
|
| Epilepsy, partial, familial |
N/A |
N/A |
No information
|
| Epilepsy benign neonatal recessive form |
N/A |
N/A |
No information
|
| Familial partial epilepsy with variable focus |
N/A |
N/A |
No information
|
| Benign familial infantile epilepsy |
N/A |
N/A |
No information
|
| Convulsions benign familial neonatal dominant form |
N/A |
N/A |
No information
|
| Myoclonic epilepsy benign, adult, familial |
N/A |
N/A |
No information
|
| Epilepsy, benign familial neonatal |
N/A |
N/A |
No information
|
| Epilepsy, familial mesial temporal lobe |
N/A |
N/A |
No information
|
| Epilepsy, X-linked -- learning disabilities -- behavior disorders |
N/A |
N/A |
No information
|
| Epilepsy, familial temporal lobe, 4 |
N/A |
N/A |
No information
|
| Epilepsy, myoclonic progressive familial |
N/A |
N/A |
No information
|
| Genetic reflex epilepsy |
N/A |
N/A |
No information
|
| Epilepsy benign neonatal dominant form |
N/A |
N/A |
No information
|
| Infantile convulsions and paroxysmal choreoathetosis, familial |
N/A |
N/A |
No information
|
| Convulsions, benign familial infantile, 1 |
N/A |
N/A |
No information
|
| Coronary artery disease, autosomal dominant 1 |
N/A |
N/A |
No information
|
| Coronary artery disease, autosomal dominant 2 |
N/A |
N/A |
No information
|
| Aortic aneurysm, familial thoracic 1 |
N/A |
N/A |
No information
|
| Aortic aneurysm, familial thoracic 2 |
N/A |
N/A |
No information
|
| Aortic aneurysm, familial thoracic 3 |
N/A |
N/A |
No information
|
| Aortic aneurysm, familial thoracic 4 |
N/A |
N/A |
No information
|
| Aortic aneurysm, familial thoracic 5 |
N/A |
N/A |
No information
|
| Aortic aneurysm, familial abdominal 1 |
N/A |
N/A |
No information
|
| Aortic aneurysm, familial abdominal 2 |
N/A |
N/A |
No information
|
| Aortic aneurysm, familial abdominal 3 |
N/A |
N/A |
No information
|
| Neuronopathy, distal hereditary motor, type IV |
N/A |
N/A |
No information
|
| Atrial fibrillation, familial 1 |
N/A |
N/A |
No information
|
| Autism, X-linked, susceptibility to, 1 |
N/A |
N/A |
No information
|
| Dystonia 15, myoclonic |
N/A |
N/A |
No information
|
| Nodular lymphocyte predominant Hodgkin lymphoma |
N/A |
N/A |
No information
|
| Dysfibrinogenemia, familial |
N/A |
N/A |
No information
|
| Familial platelet syndrome with predisposition to acute myelogenous leukemia |
N/A |
N/A |
No information
|
| Dystonia 4, Torsion, Autosomal Dominant |
N/A |
N/A |
No information
|
| Long QT syndrome, familial |
N/A |
N/A |
No information
|
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
N/A |
N/A |
No information
|
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
N/A |
N/A |
No information
|
| Choreoathetosis-spasticity, episodic |
N/A |
N/A |
No information
|
| Premature ovarian failure, familial |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 5 |
N/A |
N/A |
No information
|
| Arrhythmogenic right ventricular dysplasia, familial, 6 |
N/A |
N/A |
No information
|
| Portuguese type amyloidosis |
N/A |
N/A |
No information
|
| Hereditary amyloidosis |
N/A |
N/A |
No information
|
| Amyloidosis, familial visceral |
N/A |
N/A |
No information
|
| Amyloidosis, Familial |
N/A |
N/A |
No information
|
| Amyloidosis, cerebroarterial, hereditary, Italian type |
N/A |
N/A |
No information
|
| Amyloidosis, Inherited |
N/A |
N/A |
No information
|
| Amyloidosis VII |
N/A |
N/A |
No information
|
| Amyloidosis, familial cutaneous |
N/A |
N/A |
No information
|
| Amyloidosis, oculoleptomeningeal |
N/A |
N/A |
No information
|
| Amyloidosis, cerebroarterial, hereditary, Iowa type |
N/A |
N/A |
No information
|
| Cerebral hemorrhage with amyloidosis, hereditary, Dutch type |
N/A |
N/A |
No information
|
| Epiphyseal dysplasia, multiple, 1 |
N/A |
N/A |
No information
|
| Epiphyseal dysplasia, multiple, 2 |
N/A |
N/A |
No information
|
| Epiphyseal dysplasia, multiple, 3 |
N/A |
N/A |
No information
|
| Epiphyseal dysplasia, multiple, 5 |
N/A |
N/A |
No information
|
| Arthrogryposis multiplex congenita, distal, X-linked |
N/A |
N/A |
No information
|
| Familial supernumerary nipples |
N/A |
N/A |
No information
|
| Sensory neuropathy type 1 |
N/A |
N/A |
No information
|
| Neuropathy hereditary sensory and autonomic type 1 |
N/A |
N/A |
No information
|
| Neuropathy -- ataxia -- retinitis pigmentosa |
N/A |
N/A |
No information
|
| Hereditary Motor and Sensory Neuropathy with Deafness, Mental Retardation and Absence of Large Myelinated Fibers |
N/A |
N/A |
No information
|
| Neuropathy hereditary with liability to pressure palsies |
N/A |
N/A |
No information
|
| Hereditary sensory and autonomic neuropathy 3 |
N/A |
N/A |
estimated 1 per 3,700 people of Ashkenazi Jewish ancestry suffer from familial dysautonomia, Genetics Home Reference website
|
| Hereditary sensory neuropathy type 1 |
N/A |
N/A |
No information
|
| Hereditary sensory neuropathy type 2 |
N/A |
N/A |
No information
|
| Hereditary neuropathy with liability to pressure palsies |
N/A |
N/A |
2-5 per 100,000 people suffer from hereditary neuropathy with liability to pressure palsies, Genetics Home Reference website
|
| Hereditary angioedema, type 1 |
N/A |
N/A |
No information
|
| Hereditary angioedema, type 2 |
N/A |
N/A |
No information
|
| Hereditary angioedema, type III |
N/A |
N/A |
No information
|
| Osteopetrosis, autosomal recessive 4 |
N/A |
N/A |
No information
|
| Osteopetrosis, autosomal recessive 2 |
N/A |
N/A |
No information
|
| Osteopetrosis, mild autosomal recessive form |
N/A |
N/A |
No information
|
| Osteopetrosis autosomal dominant type 2 |
N/A |
N/A |
No information
|
| Niemann-Pick disease, type A |
N/A |
N/A |
approximately 1 per 40,000 people of Ashkenazi Jewish descent have Niemann-Pick disease type A, Genetics Home Reference website
|
| Niemann-Pick disease, type D |
N/A |
N/A |
No information
|
| Niemann-Pick disease, type C1 |
N/A |
N/A |
No information
|
| Niemann-Pick disease, type C2 |
N/A |
N/A |
approximately 1 per 150,000 people have Niemann-Pick disease type C, Genetics Home Reference website
|
| Niemann-Pick disease, type B |
N/A |
N/A |
No information
|
| Saethre-Chotzen Syndrome |
N/A |
N/A |
No information
|
| Acrocephalopolydactyly II |
N/A |
N/A |
No information
|
| Carpenter syndrome |
N/A |
N/A |
No information
|
| Acrocephalosyndactyly II |
N/A |
N/A |
No information
|
| Acrocephalosyndactyly |
N/A |
N/A |
No information
|
| Acrocephalopolydactyly |
N/A |
N/A |
No information
|
| Acrocephalopolysyndactyly type III |
N/A |
N/A |
No information
|
| Acrocephalosyndactyly type 3 (ACPS 3) |
N/A |
N/A |
No information
|
| Acrocephalopolysyndactyly, type 2 (ACPS 2) |
N/A |
N/A |
No information
|
| Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects |
N/A |
N/A |
No information
|
| ACPS III |
N/A |
N/A |
No information
|
| Marie Unna congenital hypotrichosis |
N/A |
N/A |
No information
|
| Marie Unna Hereditary Hypotrichosis 2 |
N/A |
N/A |
No information
|
| Hypertrichosis congenital generalized X-linked |
N/A |
N/A |
No information
|
| Familial deafness |
N/A |
N/A |
No information
|
| Tricho-onychic dysplasia |
N/A |
N/A |
No information
|
| Ichthyosis with hypotrichosis, autosomal recessive |
N/A |
N/A |
No information
|
| Callosities, hereditary painful |
N/A |
N/A |
No information
|
| Carotenemia, familial |
N/A |
N/A |
No information
|
| Aneuploidy |
N/A |
N/A |
No information
|
| Neuropathy, hereditary motor and sensory, LOM type |
N/A |
N/A |
No information
|
| Neuropathy, hereditary motor and sensory, Okinawa type |
N/A |
N/A |
No information
|
| Dejerine-Sottas Syndrome |
N/A |
N/A |
No information
|
| Hypertrophic neuropathy of Dejerine-Sottas |
N/A |
N/A |
No information
|
| Dejerine-Sottas disease |
N/A |
N/A |
No information
|
| Holt-Oram Syndrome |
N/A |
N/A |
estimated 1 per 100,000 people suffer from Holt-Oram disease, Genetics Home Reference website
|
| Beckwith-Wiedemann Syndrome |
N/A |
N/A |
No information
|
| Wiedemann-Beckwith syndrome |
N/A |
N/A |
No information
|
| Adrenal hypoplasia congenital, X-linked |
N/A |
N/A |
1 per 12,500 newborns suffer from adrenal hypoplasia congenita in the US, Genetics Home Reference website
|
| Hereditary thrombocythemia |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive, 7 |
N/A |
N/A |
No information
|
| Maternally inherited diabetes and deafness |
N/A |
N/A |
No information
|
| Maternally inherited diabetes and deafness with cardiomyopathy |
N/A |
N/A |
No information
|
| Diabetes insipidus, nephrogenic, dominant type |
N/A |
N/A |
No information
|
| IPEX syndrome |
N/A |
N/A |
No information
|
| Nephrotic syndrome, idiopathic, steroid-resistant |
N/A |
N/A |
No information
|
| Polyendocrinopathy, immune dysfunction, and diarrhea, X-linked |
N/A |
N/A |
No information
|
| Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy |
N/A |
N/A |
No information
|
| Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked |
N/A |
N/A |
No information
|
| Immune dysregulation -- polyendocrinopathy -- enteropathy, X linked |
N/A |
N/A |
No information
|
| Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea |
N/A |
N/A |
No information
|
| Hyper-IGM syndrome, autosomal recessive |
N/A |
N/A |
No information
|
| Lissencephaly, type 1, X-linked |
N/A |
N/A |
No information
|
| Leukocyte Adhesion Defect |
N/A |
N/A |
No information
|
| Deafness, Y-linked 1 |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency myopathy |
N/A |
N/A |
No information
|
| Neuronopathy, distal, autosomal recessive, 3 |
N/A |
N/A |
No information
|
| Dystonia with cerebellar atrophy |
N/A |
N/A |
No information
|
| Lissencephaly type III -- familial foetal akinesia sequence |
N/A |
N/A |
No information
|
| Lissencephaly, X linked -- agenesis of the corpus callosum -- genital anomalies |
N/A |
N/A |
No information
|
| Lissencephaly, X-linked, 1 |
N/A |
N/A |
No information
|
| Lissencephaly with cerebellar hypoplasia, recessive |
N/A |
N/A |
No information
|
| Lissencephaly, X-linked 2 |
N/A |
N/A |
No information
|
| Acroosteolysis dominant type |
N/A |
N/A |
No information
|
| Hajdu-Cheney Syndrome |
N/A |
N/A |
No information
|
| Familial atrial fibrillation |
N/A |
N/A |
estimated 30% of cases of atrial fibrillation are inherited (familial), Genetics Home Reference website
|
| Kallmann Syndrome |
N/A |
N/A |
No information
|
| Kallmann syndrome, type 1, X-linked |
N/A |
N/A |
No information
|
| Kallmann syndrome, type 3, recessive |
N/A |
N/A |
No information
|
| Kallmann Syndrome 5 |
N/A |
N/A |
No information
|
| Kallmann Syndrome 6 |
N/A |
N/A |
No information
|
| Kallmann syndrome 2 |
N/A |
N/A |
No information
|
| Kallmann syndrome, type 4 |
N/A |
N/A |
No information
|
| Gordon Syndrome |
N/A |
N/A |
No information
|
| Acrodermatitis Enteropathica |
N/A |
N/A |
No information
|
| Allan-Herndon-Dudley Syndrome |
N/A |
N/A |
No information
|
| Wyburn-Mason Syndrome |
N/A |
N/A |
No information
|
| Wyburn Mason's syndrome |
N/A |
N/A |
No information
|
| Cutis laxa, recessive type 1 |
N/A |
N/A |
No information
|
| Cutis laxa, recessive type 2 |
N/A |
N/A |
No information
|
| Cutis laxa, recessive |
N/A |
N/A |
No information
|
| Cutis laxa, dominant type |
N/A |
N/A |
No information
|
| Cutis Laxa, Autosomal Dominant |
N/A |
N/A |
No information
|
| Cutis Laxa, Autosomal Recessive, Type IIA |
N/A |
N/A |
No information
|
| Cutis Laxa, Autosomal Recessive, Type IIB |
N/A |
N/A |
No information
|
| Hypomelanosis of Ito |
N/A |
N/A |
No information
|
| Epidermolysis bullosa dystrophica, dominant type |
N/A |
N/A |
No information
|
| Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
N/A |
N/A |
No information
|
| Congenital ichthyosiform erythroderma |
N/A |
N/A |
No information
|
| Lamellar ichthyosis, autosomal dominant form |
N/A |
N/A |
No information
|
| Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects |
N/A |
N/A |
No information
|
| Ichthyosis congenita, Harlequin fetus type |
N/A |
N/A |
No information
|
| Harlequin syndrome |
N/A |
N/A |
No information
|
| Harlequin type ichthyosis |
N/A |
N/A |
No information
|
| Lamellar recessive ichthyosis |
N/A |
N/A |
No information
|
| X-linked ichthyosis |
N/A |
N/A |
No information
|
| Dominant ichthyosis vulgaris |
N/A |
N/A |
No information
|
| Ichthyosis vulgaris, dominant |
N/A |
N/A |
No information
|
| Dystonia 12 |
N/A |
N/A |
No information
|
| Dystonia musculorum deforms 4 |
N/A |
N/A |
No information
|
| Dystonia 13, torsion |
N/A |
N/A |
No information
|
| Dystonia 14 |
N/A |
N/A |
No information
|
| Dystonia 3, torsion, X-linked |
N/A |
N/A |
No information
|
| Dystonia 7, torsion |
N/A |
N/A |
No information
|
| Dystonia 1, Torsion, Autosomal Dominant |
N/A |
N/A |
No information
|
| Dystonia Musculorum Deformans 1 |
N/A |
N/A |
No information
|
| Camurati Engelmann disease, type 2 |
N/A |
N/A |
No information
|
| Camurat-Engelmann disease, type 2 |
N/A |
N/A |
No information
|
| Camurati-Engelmann Disease |
N/A |
N/A |
No information
|
| Optic atrophy, hearing loss and peripheral neuropathy, autosomal recessive |
N/A |
N/A |
No information
|
| Optic Atrophy -- Hearing Loss -- Peripheral Neuropathy, Autosomal Dominant |
N/A |
N/A |
No information
|
| Coarctation of aorta autosomal dominant |
N/A |
N/A |
No information
|
| Del (4) (pter-p16) and dup (12p) |
N/A |
N/A |
No information
|
| Del (4) (pter-p16) and dup (10) (pter-p14) |
N/A |
N/A |
No information
|
| Aconitase deficiency |
N/A |
N/A |
No information
|
| Myopathy with Exercise Intolerance, Swedish type |
N/A |
N/A |
No information
|
| Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase |
N/A |
N/A |
No information
|
| Myopathy with Lactic Acidosis, Hereditary |
N/A |
N/A |
No information
|
| Dentinogenesis imperfect, type 1 |
N/A |
N/A |
No information
|
| Dentinogenesis imperfecta type Brandywine |
N/A |
N/A |
No information
|
| Dentinogenesis imperfect, type II |
N/A |
N/A |
No information
|
| Dentinogenesis imperfect type Brandwine |
N/A |
N/A |
No information
|
| Dentinogenesis Imperfecta Type III |
N/A |
N/A |
No information
|
| Dentinogenesis imperfecta, type II |
N/A |
N/A |
No information
|
| Dentinogenesis imperfecta, type I |
N/A |
N/A |
No information
|
| Dentinogenesis |
N/A |
N/A |
estimated 1 per 6,000 - 8,000 people suffer from dentinogenesis imperfecta, Genetics Home Reference website
|
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
N/A |
N/A |
No information
|
| Duane Syndrome |
N/A |
N/A |
No information
|
| Duane-radial ray syndrome |
N/A |
N/A |
only a few cases of Duane-radial ray syndrome have been reported, Genetics Home Reference website
|
| Duane retraction syndrome II |
N/A |
N/A |
No information
|
| Duane anomaly -- mental retardation |
N/A |
N/A |
No information
|
| Duane retraction syndrome 2 |
N/A |
N/A |
No information
|
| Duane retraction syndrome IC |
N/A |
N/A |
No information
|
| Duane retraction syndrome IIA |
N/A |
N/A |
No information
|
| Duane retraction syndrome IIB |
N/A |
N/A |
No information
|
| Duane retraction syndrome IIC |
N/A |
N/A |
No information
|
| Duane retraction syndrome III |
N/A |
N/A |
No information
|
| Duane retraction syndrome I |
N/A |
N/A |
No information
|
| Duane retraction syndrome IIIA |
N/A |
N/A |
No information
|
| Duane retraction syndrome IIIB |
N/A |
N/A |
No information
|
| Duane retraction syndrome IA |
N/A |
N/A |
No information
|
| Duane retraction syndrome IIIC |
N/A |
N/A |
No information
|
| Duane retraction syndrome IB |
N/A |
N/A |
No information
|
| Dominant cleft palate |
N/A |
N/A |
No information
|
| Bifid nose dominant |
N/A |
N/A |
No information
|
| Rosenberg-Chutorian Syndrome |
N/A |
N/A |
No information
|
| Imerslund's Syndrome |
N/A |
N/A |
No information
|
| Imerslund's Anemia |
N/A |
N/A |
No information
|
| Imerslund-Najman-Grasbeck Anemia |
N/A |
N/A |
No information
|
| Imerslund-Najman-Grasbeck Disease |
N/A |
N/A |
No information
|
| Imerslund-Najman-Grasbeck Syndrome |
N/A |
N/A |
No information
|
| Megaloblastic Anemia 1 |
N/A |
N/A |
No information
|
| Selective Vitamin B12 malabsorption with Proteinuria |
N/A |
N/A |
No information
|
| Juvenile Megaloblastic Anemia |
N/A |
N/A |
No information
|
| Pernicious Anemia, Juvenile type |
N/A |
N/A |
No information
|
| Renal cell carcinoma, papillary, familial |
N/A |
N/A |
No information
|
| Renal cell carcinoma, papillary, hereditary |
N/A |
N/A |
No information
|
| Dentin Dysplasia, Shields Type II |
N/A |
N/A |
No information
|
| Dentin Dysplasia, Type 2 |
N/A |
N/A |
No information
|
| Dentin dysplasia |
N/A |
N/A |
No information
|
| Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1 |
N/A |
N/A |
No information
|
| Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate |
N/A |
N/A |
No information
|
| Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3 |
N/A |
N/A |
No information
|
| Sjogren-Larsson syndrome |
N/A |
N/A |
No information
|
| Hyper-IgE syndrome, autosomal recessive |
N/A |
N/A |
No information
|
| Anencephaly and spina bifida X-linked |
N/A |
N/A |
No information
|
| Whispering dysphonia, hereditary |
N/A |
N/A |
No information
|
| Vocal cord dysfunction familial |
N/A |
N/A |
No information
|
| Corpus callosum dysgenesis X-linked recessive |
N/A |
N/A |
No information
|
| Nystagmus, congenital motor, autosomal recessive |
N/A |
N/A |
No information
|
| Nystagmus 2, congenital, autosomal dominant |
N/A |
N/A |
No information
|
| Nystagmus 3, congenital, autosomal dominant |
N/A |
N/A |
No information
|
| Nystagmus 4, congenital, autosomal dominant |
N/A |
N/A |
No information
|
| Prognathism dominant |
N/A |
N/A |
No information
|
| Friedreich ataxia -- congenital glaucoma |
N/A |
N/A |
No information
|
| Inheritable disorders of connective tissue |
N/A |
N/A |
No information
|
| Calcific aortic disease with immunologic abnormalities, familial |
N/A |
N/A |
No information
|
| Beta ketothiolase deficiency |
N/A |
N/A |
50 - 60 cases of beta-ketothiolase deficiency have been reported worldwide, Genetics Home Reference website
|
| Stargardt disease 3 |
N/A |
N/A |
No information
|
| Stargardt disease 4 |
N/A |
N/A |
No information
|
| Stargardt Disease |
N/A |
N/A |
No information
|
| Stargardt disease 1 |
N/A |
N/A |
No information
|
| Visceral myopathy familial external ophthalmoplegia |
N/A |
N/A |
No information
|
| Myopathy, Congenital, Compton-North |
N/A |
N/A |
No information
|
| Myopathy due to calsequestrin and SERCA1 protein overload |
N/A |
N/A |
No information
|
| Vacuolar Cardiomyopathy and Myopathy, X-linked |
N/A |
N/A |
No information
|
| Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant |
N/A |
N/A |
No information
|
| Myopathy, Myosin storage |
N/A |
N/A |
No information
|
| Myopathy, hyaline body, autosomal dominant |
N/A |
N/A |
No information
|
| Severe dilated cardiomyopathy with or without myopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy -- hearing loss, type tRNA-LYS gene mutation |
N/A |
N/A |
No information
|
| Hereditary myopathy with intranuclear filamentous |
N/A |
N/A |
No information
|
| Hereditary inclusion body myopathy -- joint contractures -- ophthalmoplegia |
N/A |
N/A |
No information
|
| Inclusion body myopathy, type 3, autosomal dominant |
N/A |
N/A |
No information
|
| Scapuloperoneal amyotrophy |
N/A |
N/A |
No information
|
| Inclusion body myopathy, autosomal dominant |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy, X-linked dominant |
N/A |
N/A |
No information
|
| Amyotrophy, neurogenic scapuloperoneal, New England type |
N/A |
N/A |
No information
|
| Scapuloperoneal syndrome, neurogenic, Kaeser type |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy, MYH7-related |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 3B |
N/A |
N/A |
No information
|
| Cardiomyopathy dilated 2A |
N/A |
N/A |
No information
|
| Myopathy, X-linked with postural muscle atrophy |
N/A |
N/A |
No information
|
| Laing distal myopathy |
N/A |
N/A |
No information
|
| Brody myopathy |
N/A |
N/A |
No information
|
| Cardiomyopathy, X-linked, fatal infantile |
N/A |
N/A |
No information
|
| Myopathy, congenital nonprogressive with Moebius and Robin sequences |
N/A |
N/A |
No information
|
| Native American myopathy |
N/A |
N/A |
No information
|
| Inclusion body myopathy 3, autosomal dominant |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency syndrome, myopathic |
N/A |
N/A |
No information
|
| Myopathy, X-linked, with excessive autophagy |
N/A |
N/A |
No information
|
| Nemaline myopathy |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase II deficiency, myopathic |
N/A |
N/A |
No information
|
| Myopathy, myotubular |
N/A |
N/A |
No information
|
| Myopathy, congenital fiber-type disproportion |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy |
N/A |
N/A |
No information
|
| Nemalin myopathy, late onset type |
N/A |
N/A |
No information
|
| Nemaline myopathy, early onset type |
N/A |
N/A |
No information
|
| Bethlem myopathy |
N/A |
N/A |
No information
|
| Familial visceral myopathy |
N/A |
N/A |
No information
|
| Inclusion body myopathy, 2 autosomal recessive |
N/A |
N/A |
No information
|
| Fukuyama type muscular dystrophy |
N/A |
N/A |
No information
|
| Emery-Dreifuss muscular dystrophy, X-linked |
N/A |
N/A |
estimated 1 per 100,000 people suffer from X-linked Emery-Dreifuss muscular dystrophy, Genetics Home Reference website
|
| Muscular dystrophy, proximal, autosomal dominant, late onset type |
N/A |
N/A |
No information
|
| Emery-Dreifuss muscular dystrophy, dominant type |
N/A |
N/A |
No information
|
| Muscular dystrophy congenital, merosin negative |
N/A |
N/A |
No information
|
| Scapuloperoneal Syndrome |
N/A |
N/A |
No information
|
| Muscular Dystrophy, Emery Dreifuss |
N/A |
N/A |
No information
|
| Fryns Syndrome |
N/A |
N/A |
No information
|
| Holoprosencephaly deletion 2p |
N/A |
N/A |
No information
|
| Renal tubular transport disorders, inborn |
N/A |
N/A |
No information
|
| Renal tubular acidosis, distal |
N/A |
N/A |
No information
|
| Renal tubular acidosis progressive nerve deafness |
N/A |
N/A |
No information
|
| Renal tubular acidosis, distal -- type III |
N/A |
N/A |
No information
|
| Renal tubular acidosis, distal -- type I |
N/A |
N/A |
No information
|
| Renal tubular acidosis, distal, type 4 |
N/A |
N/A |
No information
|
| Renal tubular acidosis, distal, autosomal recessive |
N/A |
N/A |
No information
|
| Neuroaxonal dystrophy -- renal tubular acidosis |
N/A |
N/A |
No information
|
| Renal tubular acidosis, distal, autosomal dominant |
N/A |
N/A |
No information
|
| Histidinuria, renal tubular defect |
N/A |
N/A |
No information
|
| Cholestatic jaundice -renal tubular insufficiency |
N/A |
N/A |
No information
|
| Melanoma, familial |
N/A |
N/A |
No information
|
| Xanthine oxydase deficiency |
N/A |
N/A |
No information
|
| Ceroid storage disease |
N/A |
N/A |
No information
|
| Dominant zonular cataract |
N/A |
N/A |
No information
|
| Cataract, Zonular Pulverulent 3 |
N/A |
N/A |
No information
|
| Cataract, Zonular Pulverulent 1 |
N/A |
N/A |
No information
|
| Medullary cystic kidney disease, dominant |
N/A |
N/A |
No information
|
| Medullary cystic kidney disease |
N/A |
N/A |
No information
|
| Nephronophthisis, autosomal dominant |
N/A |
N/A |
No information
|
| Nephronophthisis 7 |
N/A |
N/A |
No information
|
| Nephronophthisis 4 |
N/A |
N/A |
No information
|
| Nephronophthisis 3 |
N/A |
N/A |
No information
|
| Nephronophthisis 2 |
N/A |
N/A |
No information
|
| Nephronophthisis familial, adult -- spastic quadriparesis |
N/A |
N/A |
No information
|
| Tremor hereditary essential, 1 |
N/A |
N/A |
No information
|
| Tremor hereditary essential, 2 |
N/A |
N/A |
No information
|
| Tremor, hereditary essential, and idiopathic normal pressure hydrocpehalus |
N/A |
N/A |
No information
|
| Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus |
N/A |
N/A |
No information
|
| Benign familial hematuria |
N/A |
N/A |
No information
|
| Polycystic ovarian disease, familial |
N/A |
N/A |
No information
|
| Punctate acrokeratoderma -- freckle-like pigmentation |
N/A |
N/A |
No information
|
| Osler-Rendu-Weber syndrome 2 |
N/A |
N/A |
No information
|
| Osler-Rendu-Weber syndrome 3 |
N/A |
N/A |
No information
|
| Smith-Fineman-Myers syndrome 1 |
N/A |
N/A |
No information
|
| Smith-Fineman-Myers syndrome 2 |
N/A |
N/A |
No information
|
| Polycystic liver disease |
N/A |
N/A |
No information
|
| Maple syrup urine disease, type II |
N/A |
N/A |
No information
|
| Maple syrup urine disease, type 2 |
N/A |
N/A |
No information
|
| Maple syrup urine disease, type 3 |
N/A |
N/A |
No information
|
| Maple syrup urine disease, type III |
N/A |
N/A |
No information
|
| Maple syrup urine disease |
N/A |
N/A |
estimated 1 per 385 infants suffer from maple syrup urine disease in the Old Order Mennonite population, Genetics Home Reference website
|
| Maple syrup urine disease, type 1A |
N/A |
N/A |
No information
|
| Aortic arch interruption |
N/A |
N/A |
No information
|
| Limb dystonia |
N/A |
N/A |
No information
|
| Torsion dystonia with onset in infancy |
N/A |
N/A |
No information
|
| Angel shaped phalangoepiphyseal dysplasia |
N/A |
N/A |
No information
|
| Nonkeratan-sulfate-excreting Morquio syndrome |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 1 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 3 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 5 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 10 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber, type 11 |
N/A |
N/A |
No information
|
| Amaurosis congenita of Leber |
N/A |
N/A |
No information
|
| Paramyotonia congenita |
N/A |
N/A |
less than 1 per 100,000 people are affected by paramyotonia congenital, Genetics Home Reference website
|
| Childhood hypophosphatasia |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1A |
N/A |
N/A |
No information
|
| CDG syndrome (generic term) |
N/A |
N/A |
No information
|
| CDG syndrome type 4 |
N/A |
N/A |
No information
|
| CDG syndrome type 1A |
N/A |
N/A |
No information
|
| CDG syndrome type 1B |
N/A |
N/A |
No information
|
| CDG syndrome type 3 |
N/A |
N/A |
No information
|
| CDG syndrome type Ic |
N/A |
N/A |
No information
|
| Congenital disorder of Glycosylation type Ic |
N/A |
N/A |
No information
|
| CDG syndrome type I |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1X |
N/A |
N/A |
No information
|
| MGA 4 |
N/A |
N/A |
No information
|
| $2-methylglutaconic aciduria type 3$ |
N/A |
N/A |
1 per 10,000 newborns from Iraqi Jewish populations suffer from 2-methylglutaconic aciduria type 3, Genetics Home Reference website
|
| $3-methylglutaconic aciduria, type 4$ |
N/A |
N/A |
No information
|
| $3-methylglutaconic aciduria, type 1$ |
N/A |
N/A |
less than 20 cases of 2-methylglutaconic aciduria type 1 have been reported, Genetics Home Reference website
|
| $3 alpha methylglutaconicaciduria, type 3$ |
N/A |
N/A |
No information
|
| $3-methylglutaconic aciduria, type V$ |
N/A |
N/A |
No information
|
| Barth Syndrome |
N/A |
N/A |
1 per 200,000 male infants suffer from 2-methylglutaconic aciduria type 2, Genetics Home Reference website
|
| Familial ventricular tachycardia |
N/A |
N/A |
No information
|
| Cornelia de Lange Syndrome |
N/A |
N/A |
estimated 1 per 10,000 - 30,000 newborns suffer from Cornelia de Lange syndrome, Genetics Home Reference website
|
| Cornelia de Lange syndrome 2 |
N/A |
N/A |
No information
|
| Cornelia de Lange syndrome 3 |
N/A |
N/A |
No information
|
| Cornelia de Lange syndrome 1 |
N/A |
N/A |
No information
|
| Crouzon Syndrome |
N/A |
N/A |
16 million newborns suffer from Crouzon syndrome, Genetics Home Reference website
|
| Craniofacial dysostosis type 1 |
N/A |
N/A |
No information
|
| Deletion 22q11 |
N/A |
N/A |
No information
|
| Chromosome 22q11 Deletion Spectrum |
N/A |
N/A |
No information
|
| Shprintzen syndorme |
N/A |
N/A |
No information
|
| $22q11.2 deletion syndrome$ |
N/A |
N/A |
No information
|
| Chromosome 22, microdeletion 22q11 |
N/A |
N/A |
No information
|
| Chromosome 22q11.2 deletion syndrome |
N/A |
N/A |
estimated 1 per 4,000 newborns are affected by chromosome 22q11.2 deletion syndrome, Genetics Home Reference website
|
| Chromosome 22q11 deletion |
N/A |
N/A |
No information
|
| Turner Syndrome |
N/A |
N/A |
1 per 2,500 live female births are affected by Turner syndrome, Genetics Home Reference website
|
| Klinefelter syndrome |
N/A |
N/A |
1 per 500 - 1,000 males are affected by Klinefelter syndrome, Genetics Home Reference website
|
| Jacobs syndrome |
N/A |
N/A |
1-in-2000 approximately.
|
| Zellweger Syndrome |
N/A |
N/A |
rare
|
| Coffin-Siris Syndrome |
N/A |
N/A |
No information
|
| Von Hippel-Lindau Disease |
N/A |
N/A |
rare
|
| Angelman syndrome |
N/A |
N/A |
1 per 12,000 - 20,000 people are affected by Angelman syndrome, Genetics Home Reference website
|
| Prader-Willi syndrome |
N/A |
N/A |
estimated 1 per 10,000 - 25,000 people suffer from Prader-Willi syndrome, Genetics Home Reference website
|
| Wildervanck syndrome 3 |
N/A |
N/A |
No information
|
| Genee-Wiedemann syndrome |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 5 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 4 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 3 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 2 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant, 1 |
N/A |
N/A |
No information
|
| Progressive External Opthhalmoplegia, Autosomal Dominant |
N/A |
N/A |
No information
|
| Surfactant Metabolism Dysfunction |
N/A |
N/A |
No information
|
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
N/A |
N/A |
No information
|
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
N/A |
N/A |
No information
|
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
N/A |
N/A |
No information
|
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
N/A |
N/A |
No information
|
| Leukocyte Adhesion Deficiency, Type I |
N/A |
N/A |
No information
|
| Leukocyte Adhesion Deficiency, Type III |
N/A |
N/A |
No information
|
| Leukocyte adhesion deficiency type 1 |
N/A |
N/A |
No information
|
| Leukocyte adhesion deficiency (LAD) |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type X -- leukocyte adhesion deficiency syndrome type II phenotype |
N/A |
N/A |
No information
|
| Hyper IgE |
N/A |
N/A |
No information
|
| Roussy-Levy hereditary areflexic dystasia |
N/A |
N/A |
No information
|
| Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality |
N/A |
N/A |
No information
|
| Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency |
N/A |
N/A |
No information
|
| Lymphoproliferative Syndrome, X-Linked, 2 |
N/A |
N/A |
No information
|
| Lymphoproliferative Syndrome, X-Linked, 1 |
N/A |
N/A |
No information
|
| Avascular necrosis of femoral head, familial form |
N/A |
N/A |
No information
|
| Andrade's syndrome |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor, Jerash type |
N/A |
N/A |
No information
|
| Apo A-I deficiency |
N/A |
N/A |
No information
|
| Mitral valve prolapse, familial, autosomal dominant |
N/A |
N/A |
No information
|
| Hyperparathyroidism, familial, primary |
N/A |
N/A |
No information
|
| Nephrotic syndrome, idiopathic, steroid-resistant, familial |
N/A |
N/A |
No information
|
| Nephrosis, idiopathic form, familial |
N/A |
N/A |
No information
|
| Nephrotic syndrome, idiopathic, steroid-resistant, autosomal recessive |
N/A |
N/A |
No information
|
| Nephrotic syndrome type 2 |
N/A |
N/A |
No information
|
| Nephrotic syndrome, early onset, type 3 |
N/A |
N/A |
No information
|
| Nephrotic syndrome, steroid-sensitive |
N/A |
N/A |
No information
|
| Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly |
N/A |
N/A |
No information
|
| Partington X-linked mental retardation syndrome |
N/A |
N/A |
No information
|
| Syncope, familial neurocardiogenic |
N/A |
N/A |
No information
|
| Schizotaxia |
N/A |
N/A |
No information
|
| Rippling muscle disease |
N/A |
N/A |
No information
|
| Hypocalcemia, autosomal dominant |
N/A |
N/A |
No information
|
| Methionine adenosyltransferase deficiency |
N/A |
N/A |
No information
|
| Microcephaly with chorioretinopathy, autosomal dominant form |
N/A |
N/A |
No information
|
| Neurofibromatosis, familial intestinal |
N/A |
N/A |
No information
|
| Hypoparathyroidism X-linked |
N/A |
N/A |
No information
|
| Hydrocephalus autosomal recessive |
N/A |
N/A |
No information
|
| Rippling muscle disease, 1 |
N/A |
N/A |
No information
|
| Rippling muscle disease, 2 |
N/A |
N/A |
No information
|
| Dandy Walker syndrome recessive form |
N/A |
N/A |
No information
|
| Ovarioleukodystrophy |
N/A |
N/A |
No information
|
| Flat umbilicus familial |
N/A |
N/A |
No information
|
| Hypoglycemia with deficiency of glycogen synthetase in the liver |
N/A |
N/A |
No information
|
| Familial periodic paralysis |
N/A |
N/A |
No information
|
| Familial neurocardiogenic syncope |
N/A |
N/A |
No information
|
| Candidiasis familial chronic mucocutaneous, autosomal recessive |
N/A |
N/A |
No information
|
| Down Syndrome |
N/A |
N/A |
No information
|
| Patau syndrome |
N/A |
N/A |
No information
|
| Cri-du-chat syndrome |
N/A |
N/A |
1 per 200,000-500,000 newborns are affected by Cri-du-chat syndrome, Genetics Home Reference website
|
| Androgen Insensitivity Syndrome |
N/A |
N/A |
very rare
|
| Chediak-Higashi Syndrome |
N/A |
N/A |
rare
|
| Purine nucleoside phosphorylase (PNP) deficiency |
N/A |
N/A |
No information
|
| ADA Deficiency |
N/A |
N/A |
No information
|
| Tay-Sachs disease -- adult onset |
N/A |
N/A |
No information
|
| Tay Sachs Disease |
N/A |
N/A |
No information
|
| Galactokinase deficiency |
N/A |
N/A |
No information
|
| Leber's hereditary optic atrophy |
N/A |
N/A |
No information
|
| Lafora body disease |
N/A |
N/A |
No information
|
| Glycogen branching deficiency |
N/A |
N/A |
No information
|
| Glycogen debranching deficiency |
N/A |
N/A |
No information
|
| Lysosomal glycogen storage disease with normal acid maltase activity |
N/A |
N/A |
No information
|
| Glycogenosis, type O |
N/A |
N/A |
No information
|
| Glycogenosis type 8 |
N/A |
N/A |
No information
|
| Cholestasis, progressive familial intrahepatic 1 |
N/A |
N/A |
No information
|
| Glycogenosis, type 0 |
N/A |
N/A |
No information
|
| Glycogenosis type 2 |
N/A |
N/A |
No information
|
| Cholestasis, progressive familial intrahepatic 2 |
N/A |
N/A |
No information
|
| Cholestasis, progressive familial intrahepatic 3 |
N/A |
N/A |
No information
|
| Familial hyperlipoproteinemia type 4 |
N/A |
N/A |
No information
|
| Lipodystrophy, familial partial, type 3 (FPLD3) |
N/A |
N/A |
No information
|
| Hypoalphalipoproteinemia, primary |
N/A |
N/A |
No information
|
| Epileptic encephalopathy, early infantile, 3 |
N/A |
N/A |
No information
|
| Epileptic encephalopathy, early infantile, 1 |
N/A |
N/A |
No information
|
| Epileptic encephalopathy, early infantile, 2 |
N/A |
N/A |
No information
|
| Apolipoprotein C 2I deficiency |
N/A |
N/A |
No information
|
| Nephropathy familial with hyperuricemia |
N/A |
N/A |
No information
|
| Hyperlipoproteinemia type 5 |
N/A |
N/A |
No information
|
| Defective apolipoprotein B-100 |
N/A |
N/A |
No information
|
| Homozygous hypobetalipoproteinemia |
N/A |
N/A |
No information
|
| Hereditary macrothrombocytopenia |
N/A |
N/A |
No information
|
| Butyrylcholinesterase deficiency |
N/A |
N/A |
No information
|
| Citrulline transport defect |
N/A |
N/A |
No information
|
| Inborn branched chain aminoaciduria |
N/A |
N/A |
No information
|
| Dementia, familial Danish |
N/A |
N/A |
No information
|
| Aromatic amino acid decarboxylase deficiency |
N/A |
N/A |
No information
|
| Immune deficiency, familial variable |
N/A |
N/A |
No information
|
| Cholesteryl ester transfer protein deficiency |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase deficiency |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase 2 deficiency |
N/A |
N/A |
No information
|
| Spasticity -- mental retardation -- epilepsy, X-linked |
N/A |
N/A |
No information
|
| Anorexia nervosa, genetic types |
N/A |
N/A |
No information
|
| Pyloric stenosis, infantile hypertrophic, 4 |
N/A |
N/A |
No information
|
| Cerebrotendinous Xanthomatosus |
N/A |
N/A |
No information
|
| Hyperprolinemia type 2 |
N/A |
N/A |
No information
|
| X-linked hypogammaglobulinemia |
N/A |
N/A |
No information
|
| Pyloric stenosis, infantile hypertrophic, 1 |
N/A |
N/A |
No information
|
| Pyloric stenosis, infantile hypertrophic, 2 |
N/A |
N/A |
No information
|
| Pyloric stenosis, infantile hypertrophic, 3 |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency |
N/A |
N/A |
No information
|
| Familial Tetralogy of Fallot and Glaucoma |
N/A |
N/A |
No information
|
| Tay-Sachs disease -- juvenile onset |
N/A |
N/A |
No information
|
| Morquio syndrome, type B |
N/A |
N/A |
No information
|
| Morquio syndrome type A |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis type I Scheie syndrome |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis type 2 Hunter syndrome- mild form |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis type 2 Hunter syndrome- severe form |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis type I Hurler-Scheie syndrome |
N/A |
N/A |
about 200 people ("Orphan Products: Hope for People With Rare Diseases", By Carol Rados, FDA Consumer magazine, November-December 2003 Issue)
|
| Mucopolysaccharidosis type I Hurler syndrome |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis type 7 Sly syndrome |
N/A |
N/A |
No information
|
| Pompe disease |
N/A |
N/A |
1 per 40,000 people suffer from Pompe disease, Genetics Home Reference website
|
| Short QT syndrome |
N/A |
N/A |
less than 30 cases of short QT syndrome have been reported, Genetics Home Reference website
|
| Androgenetic alopecia |
N/A |
N/A |
estimated 35 million men suffer from androgenetic alopecia in the US, Genetics Home Reference website
|
| X-linked mental retardation type Martinez |
N/A |
N/A |
No information
|
| Krabbe disease, atypical, due to saposin A deficiency |
N/A |
N/A |
No information
|
| Gaucher disease -- perinatal lethal form |
N/A |
N/A |
No information
|
| SBCAD deficiency |
N/A |
N/A |
No information
|
| $3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency$ |
N/A |
N/A |
No information
|
| Properdin deficiency, type III |
N/A |
N/A |
No information
|
| Adenosine monophosphate deaminase deficiency |
N/A |
N/A |
No information
|
| Methylmalonic acidemia |
N/A |
N/A |
No information
|
| Hypoprolinemia |
N/A |
N/A |
No information
|
| Aspartylglucosaminidase deficiency |
N/A |
N/A |
No information
|
| Glutamate-cysteine ligase deficiency |
N/A |
N/A |
No information
|
| Primary hyperoxaluria type 2 |
N/A |
N/A |
No information
|
| Primary hyperoxaluria type 1 |
N/A |
N/A |
No information
|
| Methylmalonic aciduria -- homocystinuria |
N/A |
N/A |
No information
|
| Corticosterone Methyloxidase type I Deficiency |
N/A |
N/A |
No information
|
| Phosphoglucomutase deficiency type 1 |
N/A |
N/A |
No information
|
| Medium and long chan 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Biotinidase deficiency, late onset |
N/A |
N/A |
No information
|
| $17-Beta-hydroxysteroid dehydrogenase III deficiency$ |
N/A |
N/A |
No information
|
| $3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of$ |
N/A |
N/A |
No information
|
| $3-Beta-HSD, Deficiency of$ |
N/A |
N/A |
No information
|
| $3-Beta-Hydroxysteroid Dehydrogenase deficiency$ |
N/A |
N/A |
No information
|
| Enolase deficiency |
N/A |
N/A |
No information
|
| Glutaryl-CoA dehydrogenase deficiency |
N/A |
N/A |
No information
|
| N-acetyl-alpha-glucosaminidase sulfamidase deficiency |
N/A |
N/A |
No information
|
| Familial hypertriglyceridemia |
N/A |
N/A |
No information
|
| $3-Hydroxyacyl-CoA Dehydrogenase II Deficiency$ |
N/A |
N/A |
No information
|
| SCHAD deficiency |
N/A |
N/A |
No information
|
| Type 10 17b-hydroxysteroid dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis Type III |
N/A |
N/A |
No information
|
| Hyperammonemia -- hypoornithinemia -- hypocitrullinemia -- hypoargininemia -- hypoprolinemia |
N/A |
N/A |
No information
|
| Hyperdibasic aminoaciduria type 2 |
N/A |
N/A |
No information
|
| Cytochrome c oxydase deficiency, French-Canadian type |
N/A |
N/A |
No information
|
| NADH CoQ reductase, deficiency of |
N/A |
N/A |
No information
|
| Deficiency of Member 8 Acyl-CoA Dehydrogenace Family |
N/A |
N/A |
No information
|
| Mild citrullinemia |
N/A |
N/A |
No information
|
| Arginninosuccinic acid synthetase deficiency |
N/A |
N/A |
No information
|
| C1esterase deficiency |
N/A |
N/A |
No information
|
| Familial infantile metachromatic leukodystrophy -- late infantile |
N/A |
N/A |
No information
|
| Cytochrome C Oxidase Deficiency |
N/A |
N/A |
No information
|
| Pyridoxamine 5-prime-phosphate oxidase deficiency |
N/A |
N/A |
No information
|
| Phosphoserine aminotransferase deficiency |
N/A |
N/A |
No information
|
| Methylmalonic acidemia -- homocystinuria |
N/A |
N/A |
No information
|
| Properdin deficiency, type II |
N/A |
N/A |
No information
|
| Properdin deficiency |
N/A |
N/A |
No information
|
| Combined oxidative phosphorylation deficiency 5 |
N/A |
N/A |
No information
|
| Triosephosphate isomerase 1 |
N/A |
N/A |
No information
|
| Perinatal-lethal Gaucher disease |
N/A |
N/A |
No information
|
| Carbohydrate deficiency glycoprotein syndrome type II |
N/A |
N/A |
No information
|
| Chondrodysplasia punctata with steroid sulfatase deficiency |
N/A |
N/A |
No information
|
| Obesity due to congenital leptin deficiency |
N/A |
N/A |
No information
|
| Methylmalonicaciduria, vitamin B12 unresponsive, mut 0 |
N/A |
N/A |
No information
|
| Phosphoglucomutase deficiency |
N/A |
N/A |
No information
|
| Methylmalonic acidemia, vitamin B12 responsive |
N/A |
N/A |
No information
|
| Properdin deficiency, type I |
N/A |
N/A |
No information
|
| Lecithin-cholesterol acyltransferase deficiency, LCAT |
N/A |
N/A |
No information
|
| Methylmalonicaciduria, vitamin B12 unresponsive, mut - |
N/A |
N/A |
No information
|
| Serine deficiency |
N/A |
N/A |
No information
|
| Beta-Glutamylcysteine synthetase deficiency |
N/A |
N/A |
No information
|
| Farber's disease |
N/A |
N/A |
No information
|
| Delta-1-pyrroline 5-carboxylate synthetase deficiency |
N/A |
N/A |
No information
|
| Beta-ureidopropionase deficiency |
N/A |
N/A |
No information
|
| $3?-hydroxysteroid dehydrogenase deficiency$ |
N/A |
N/A |
No information
|
| Acidemia, isovaleric |
N/A |
N/A |
No information
|
| Isovaleric Acidemia |
N/A |
N/A |
No information
|
| Acidemia, propionic |
N/A |
N/A |
No information
|
| Antigen-peptide-transporter 2 deficiency |
N/A |
N/A |
No information
|
| Antigen-peptide-transporter deficiency |
N/A |
N/A |
No information
|
| Glutaric Acidemia Type I |
N/A |
N/A |
No information
|
| D-glycericacidemia |
N/A |
N/A |
No information
|
| Refsum disease with increased pipecolic acidemia |
N/A |
N/A |
No information
|
| Glutaric aciduria 2 |
N/A |
N/A |
No information
|
| Glutaric Aciduria, neonatal form of type II A |
N/A |
N/A |
No information
|
| Orotic aciduria hereditary |
N/A |
N/A |
No information
|
| ARCA |
N/A |
N/A |
No information
|
| Arginine-glycine amidinotransferase deficiency |
N/A |
N/A |
No information
|
| Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency |
N/A |
N/A |
No information
|
| Glutaricaciduria type 3 |
N/A |
N/A |
No information
|
| $4-hydroxyphenylacetic aciduria$ |
N/A |
N/A |
No information
|
| Caspase-8 deficiency |
N/A |
N/A |
No information
|
| Hypothyroidism due to iodide transport defect |
N/A |
N/A |
No information
|
| Glutamine deficiency, congenital |
N/A |
N/A |
No information
|
| Glycosylphosphatidylinositol deficiency |
N/A |
N/A |
No information
|
| Creatine deficiency, X-linked |
N/A |
N/A |
No information
|
| Acetyl-coa acetyltransferase 2 deficiency |
N/A |
N/A |
No information
|
| Aminoacylase 1 deficiency |
N/A |
N/A |
No information
|
| Cortisone reductase deficiency |
N/A |
N/A |
No information
|
| CD3 deficiency |
N/A |
N/A |
No information
|
| HMG CoA synthetase deficiency |
N/A |
N/A |
No information
|
| Hydroxyacyl-coa dehydrogenase, type 2, deficiency |
N/A |
N/A |
No information
|
| Thyroid hormone plasma membrane transport defect |
N/A |
N/A |
No information
|
| SSADH deficiency (succinic semialdehyde dehydrogenase deficiency) |
N/A |
N/A |
No information
|
| Pyruvate kinase deficiency, liver type |
N/A |
N/A |
No information
|
| Hypercholesterolemia, autosomal dominant |
N/A |
N/A |
No information
|
| Hyperphenilalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency |
N/A |
N/A |
No information
|
| Peroxisomal bifunctional enzyme deficiency |
N/A |
N/A |
No information
|
| Trihydroxycholestanoylcoa oxidase isolated deficiency |
N/A |
N/A |
No information
|
| Pyruvate dehydrogenase phosphatase deficiency |
N/A |
N/A |
No information
|
| Phenol sulfotransferase deficiency |
N/A |
N/A |
No information
|
| Phosphoribosylpyrophosphate synthetase deficiency |
N/A |
N/A |
No information
|
| Multiple carboxylase deficiency, propionic acidemia |
N/A |
N/A |
No information
|
| Lipoamide dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Enolase deficiency type 3 |
N/A |
N/A |
No information
|
| Coenzyme Q cytochrome c reductase deficiency of |
N/A |
N/A |
No information
|
| Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Magnesium wasting renal |
N/A |
N/A |
No information
|
| GTP cyclohydrolase deficiency |
N/A |
N/A |
No information
|
| Glycine synthase deficiency |
N/A |
N/A |
No information
|
| Dopamine beta-hydroxylase deficiency |
N/A |
N/A |
No information
|
| Prekallikrein deficiency, congenital |
N/A |
N/A |
No information
|
| Alpha-N-acetylgalactosaminidase deficiency, Type II |
N/A |
N/A |
No information
|
| Lactic acidosis congenital infantile |
N/A |
N/A |
No information
|
| Aromatase deficiency |
N/A |
N/A |
No information
|
| Dehydratase deficiency |
N/A |
N/A |
No information
|
| Glyceraldehyde-3-phosphate dehydrogenase deficiency |
N/A |
N/A |
No information
|
| NADH cytochrome B5 reductase deficiency |
N/A |
N/A |
No information
|
| Pseudoarylsulfatase A deficiency |
N/A |
N/A |
No information
|
| Succinyl-CoA acetoacetate transferase deficiency |
N/A |
N/A |
No information
|
| Alpha-N-acetylgalactosaminidase deficiency, Type III |
N/A |
N/A |
No information
|
| Glycine synthase deficiency, type 2 |
N/A |
N/A |
No information
|
| Glycine synthase deficiency, type 1 |
N/A |
N/A |
No information
|
| Thiolase deficiency |
N/A |
N/A |
No information
|
| Pyruvate carboxylase deficiency |
N/A |
N/A |
estimated 1 per 250,000 births are affected by pyruvate carboxylase deficiency, Genetics Home Reference website
|
| Isovaleric academia |
N/A |
N/A |
1 per 250,000 births are affected by isovaleric academia in the US, Genetics Home Reference website
|
| Propionic academia |
N/A |
N/A |
estimated 1 per 100,000 live births suffer from propionic academia in the US, Genetics Home Reference website
|
| Adenosine deaminase deficiency |
N/A |
N/A |
No information
|
| Guanidinoacetate methyltransferase deficiency |
N/A |
N/A |
No information
|
| Adenylosuccinate lyase deficiency |
N/A |
N/A |
No information
|
| Alpha-ketoglutarate dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Gamma aminobutyric acid transaminase deficiency |
N/A |
N/A |
No information
|
| Aldolase A deficiency |
N/A |
N/A |
No information
|
| $3 alpha methylcrotonyl-coa carboxylase 2 deficiency$ |
N/A |
N/A |
No information
|
| $3 alpha methylcrotonyl-Coa carboxylase 1 deficiency$ |
N/A |
N/A |
No information
|
| Hyperhomocysteinemia |
N/A |
N/A |
No information
|
| $18-Hydroxylase deficiency$ |
N/A |
N/A |
No information
|
| Sulfite oxidase deficiency |
N/A |
N/A |
No information
|
| Fetal akinesia syndrome, X-linked |
N/A |
N/A |
No information
|
| ACTH resistance |
N/A |
N/A |
No information
|
| Glutamate decarboxylase deficiency |
N/A |
N/A |
No information
|
| Methylmalonic acidemia, synthesis defect of AdoCbl and MeCbl |
N/A |
N/A |
No information
|
| Purine nucleoside phosphorylase deficiency |
N/A |
N/A |
No information
|
| Fructose-1,6-bisphosphatase deficiency, hereditary |
N/A |
N/A |
No information
|
| Methylmalonicacidemia with homocystinuria, cbl D |
N/A |
N/A |
No information
|
| Pyruvate kinase deficiency, hemolytic anemia |
N/A |
N/A |
No information
|
| Pyruvate decarboxylase deficiency |
N/A |
N/A |
No information
|
| Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency |
N/A |
N/A |
No information
|
| Glucosephosphate isomerase deficiency |
N/A |
N/A |
No information
|
| Xanthine oxidase deficiency type II |
N/A |
N/A |
No information
|
| Orotidylic decarboxylase deficiency |
N/A |
N/A |
No information
|
| Myeloperoxidase deficiency |
N/A |
N/A |
No information
|
| Molybdenum, cofactor deficiency, inherited |
N/A |
N/A |
No information
|
| Methylmalonic acidemia, methylmalonyl CoA racemase deficiency |
N/A |
N/A |
No information
|
| Prolidase deficiency |
N/A |
N/A |
No information
|
| Hyperlysinemia, persistent |
N/A |
N/A |
No information
|
| Citrullinemia I, later-onset |
N/A |
N/A |
No information
|
| Valinemia |
N/A |
N/A |
No information
|
| Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
N/A |
N/A |
estimated 1 per 62,000 people suffer from long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in Finland, Genetics Home Reference website
|
| Thiopurine-s-methyltransferase deficiency |
N/A |
N/A |
No information
|
| Methylene tetrahydrofolate reductase deficiency |
N/A |
N/A |
No information
|
| Oroticaciduria 1 |
N/A |
N/A |
No information
|
| Adenine phosphoribosyltransferase deficiency |
N/A |
N/A |
No information
|
| Periodic hyperlysinemia |
N/A |
N/A |
No information
|
| Muscle phosphoglycerate kinase deficiency |
N/A |
N/A |
No information
|
| Xanthine oxidase deficiency type I |
N/A |
N/A |
No information
|
| Dihydropyrimidine dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Properdin deficiency, X-linked |
N/A |
N/A |
No information
|
| Gamma-cystathionase deficiency |
N/A |
N/A |
No information
|
| Xanthinuria |
N/A |
N/A |
No information
|
| VLCAD deficiency |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase 1 deficiency |
N/A |
N/A |
less than 50 people suffer from Jervell and Lange-Nielsen syndrome worldwide, Genetics Home Reference website
|
| Fructose-1-phosphate aldolase deficiency, hereditary |
N/A |
N/A |
No information
|
| Glucocorticoid deficiency, familial |
N/A |
N/A |
No information
|
| Arginase deficiency |
N/A |
N/A |
estimated 1 per 300,000 - 1,000,000 people suffer from arginase deficiency, Genetics Home Reference website
|
| Hereditary carnitine deficiency syndrome, systemic |
N/A |
N/A |
No information
|
| Pyruvate carboxylase deficiency, Group C |
N/A |
N/A |
No information
|
| Pyruvate carboxylase deficiency, Group B |
N/A |
N/A |
No information
|
| Pyruvate carboxylase deficiency, Group A |
N/A |
N/A |
No information
|
| $5-alpha-Oxoprolinase deficiency$ |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase II deficiency, lethal neonatal form |
N/A |
N/A |
the lethal neonatal form of carnitine palitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
|
| Hemochromatosis type 2 |
N/A |
N/A |
No information
|
| Hemochromatosis type 1 |
N/A |
N/A |
1 million people suffer from hemochromatosis type 1 in the US, Genetics Home Reference website
|
| Neonatal hemochromatosis |
N/A |
N/A |
No information
|
| Hemochromatosis type 3 |
N/A |
N/A |
No information
|
| Hemochromatosis type 4 |
N/A |
N/A |
No information
|
| ACAD9 deficiency |
N/A |
N/A |
No information
|
| ACAD8 deficiency |
N/A |
N/A |
No information
|
| Pyruvate Kinase Deficiency |
N/A |
N/A |
No information
|
| Glutathione synthetase deficiency, severe |
N/A |
N/A |
No information
|
| Pyruvate dehydrogenase deficiency |
N/A |
N/A |
No information
|
| Glutaricaciduria 2B |
N/A |
N/A |
No information
|
| Argininosuccinase lyase deficiency, late onset |
N/A |
N/A |
No information
|
| Glutathione synthetase deficiency, intermediate |
N/A |
N/A |
No information
|
| Hyperprolinemia type II |
N/A |
N/A |
No information
|
| Holocarboxylase synthetase deficiency |
N/A |
N/A |
estimated 1 per 87,000 people are affected by holocarboxylase synthetase deficiency, Genetics Home Reference website
|
| Fucosidosis type II |
N/A |
N/A |
No information
|
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency |
N/A |
N/A |
No information
|
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
N/A |
N/A |
estimated less than 100 people have been reportd with ornithine translocase deficiency worldwide, Genetics Home Reference website
|
| Glutathione synthetase deficiency, mild |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency syndrome |
N/A |
N/A |
No information
|
| Tyrosinemia |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1E |
N/A |
N/A |
No information
|
| Myoadenylate deaminase deficiency |
N/A |
N/A |
No information
|
| Carnitine-acylcarnitine translocase deficiency |
N/A |
N/A |
about 30 cases of carnitine-acylcarnitine translocase deficiency have been confirmed, Genetics Home Reference website
|
| Citrullinemia II |
N/A |
N/A |
1 per 100,000 - 230,000 people have citrullinemia II in Japan , Genetics Home Reference website
|
| $3-methylcrotonyl-CoA carboxylase deficiency$ |
N/A |
N/A |
estimated 1 per 50,000 people suffer from 3-methylcrotonyl-CoA carboxylase deficiency, Genetics Home Reference website
|
| Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type |
N/A |
N/A |
the infantile hepatocardiomusucular form of carnitine palmitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
|
| $4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency$ |
N/A |
N/A |
No information
|
| Carbamoyl-phosphate synthase 1 deficiency |
N/A |
N/A |
estimated 1 per 800,000 newborns suffer from carbamoyl phosphate synthetase I deficiency in Japan, Genetics Home Reference website
|
| Biotinidase deficiency |
N/A |
N/A |
about 1 per 60,000 newborns suffer from profound or partial biotinidase deficiency, Genetics Home Reference website
|
| Acid phosphatase deficiency |
N/A |
N/A |
No information
|
| Galactosemia III |
N/A |
N/A |
No information
|
| $17-20 desmolase deficiency$ |
N/A |
N/A |
No information
|
| Tyrosinemia, type III |
N/A |
N/A |
only a few cases of tyrosinemia type III have been reported, Genetics Home Reference website
|
| Hyperprolinemia type I |
N/A |
N/A |
No information
|
| N-acetyl glutamate synthetase deficiency |
N/A |
N/A |
only a few cases of N-acetylglutamate synthase deficiency have been reported worldwide, Genetics Home Reference website
|
| Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |
N/A |
N/A |
No information
|
| Carnitine transporter deficiency |
N/A |
N/A |
1 per 40,000 newborns suffer from primary carnitine deficiency in Japan, Genetics Home Reference website
|
| Ornithine transcarbamylase (OTC) Deficiency |
N/A |
N/A |
estimated 1 per 80,000 people suffer fro ornithine transcarbamylase deficiency, Genetics Home Reference website
|
| Glutathionuria |
N/A |
N/A |
No information
|
| $2-methylbutyryl-coenzyme A dehydrogenase deficiency$ |
N/A |
N/A |
1 per 250 - 500 people from Hmong populations in southeast Asia and America suffer from 2-methylbutyryl-coenzyme A dehydrogenase deficiency though many are asymptomatic, Genetics Home Reference website
|
| Citrullinemia I |
N/A |
N/A |
1 per 57,000 people have citrullinemia I worldwide , Genetics Home Reference website
|
| Argininosuccinase lyase deficiency, neonatal |
N/A |
N/A |
No information
|
| Protein C deficiency |
N/A |
N/A |
No information
|
| UDP-Galactose-4-epimerase deficiency |
N/A |
N/A |
No information
|
| Urocanase deficiency |
N/A |
N/A |
No information
|
| Mitochondrial trifunctional protein deficiency |
N/A |
N/A |
No information
|
| Krabbe leukodystrophy |
N/A |
N/A |
1 per 100,000 people are affected by Krabbe disease in the US, Genetics Home Reference website
|
| Mucopolysaccharidosis type 6 |
N/A |
N/A |
No information
|
| Mucopolysaccharidosis type 3 |
N/A |
N/A |
No information
|
| Sucrase-Isomaltase Deficiency |
N/A |
N/A |
No information
|
| Glucose-6-Phosphate Dehydrogenase Deficiency |
N/A |
N/A |
1 in 10 African-American males suffer from glucose-6-phosphate dehydrogenase deficiency in the US, Genetics Home Reference website
|
| Short-Chain Acyl-CoA Dehydrogenase Deficiency |
N/A |
N/A |
1 per 40,000 - 100, 000 newborns suffer from short-chain acyl-CoA dehydrogenase deficiency in the US, Genetics Home Reference website
|
| Long-Chain Acyl-CoA Dehydrogenase Deficiency |
N/A |
N/A |
No information
|
| Tyrosinemia Type I |
N/A |
N/A |
No information
|
| The Methylmalonic Acidemias |
N/A |
N/A |
No information
|
| Fabry's Disease |
N/A |
N/A |
rare
|
| Krabbé Disease |
N/A |
N/A |
rare
|
| Isobutyryl-coenzyme A dehydrogenase deficiency |
N/A |
N/A |
less than 5 cases of isobutyryl-coenzyme A dehydrogenase deficiency have been reported, Genetics Home Reference website
|
| Adenylate Kinase Deficiency |
N/A |
N/A |
No information
|
| Familial renal cell carcinoma |
N/A |
N/A |
No information
|
| Hereditary Leiomyomatosis and Renal Cell Cancer |
N/A |
N/A |
No information
|
| X-linked agammaglobulinaemia |
N/A |
N/A |
No information
|
| Agammaglobulinemias, Primary |
N/A |
N/A |
No information
|
| Agammaglobulinemia, autosomal recessive |
N/A |
N/A |
No information
|
| Agammaglobulinemia, X-linked, type 2 |
N/A |
N/A |
No information
|
| Immunodeficiency due to defect in MAPBP-interacting protein |
N/A |
N/A |
No information
|
| Protein R deficiency |
N/A |
N/A |
No information
|
| Protein S deficiency |
N/A |
N/A |
No information
|
| Hemoglobin E disease |
N/A |
N/A |
No information
|
| Adducted thumb syndrome recessive form |
N/A |
N/A |
No information
|
| Hemeralopia, familial |
N/A |
N/A |
No information
|
| Lubs X-linked mental retardation syndrome |
N/A |
N/A |
No information
|
| Heterotaxia autosomal dominant type |
N/A |
N/A |
No information
|
| Neurodegenerative syndrome, X-linked, Bertini type |
N/A |
N/A |
No information
|
| Neurodegenerative syndrome, X-linked, Hamel type |
N/A |
N/A |
No information
|
| Dosage-sensitive sex reversal |
N/A |
N/A |
No information
|
| Gastritis, familial giant hypertrophic |
N/A |
N/A |
No information
|
| Choroideremia -- hypopituitarism |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1D |
N/A |
N/A |
No information
|
| Diarrhea -- polyendocrinopathy -- infections, X-linked |
N/A |
N/A |
No information
|
| Familial chronic benign neutropenia |
N/A |
N/A |
No information
|
| Hypophosphatemia, Familial |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 2B |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1C |
N/A |
N/A |
No information
|
| Hemoglobin C Thalassemia |
N/A |
N/A |
No information
|
| Biemond syndrome type 1 |
N/A |
N/A |
No information
|
| Biemond Syndrome |
N/A |
N/A |
No information
|
| Biemond syndrome type 2 |
N/A |
N/A |
No information
|
| Biemond syndrome type 3 |
N/A |
N/A |
No information
|
| Hemoglobin D trait (AD) |
N/A |
N/A |
No information
|
| Hemoglobin SC |
N/A |
N/A |
No information
|
| Hemoglobin S-G (S-D) |
N/A |
N/A |
No information
|
| Hemoglobin E trait |
N/A |
N/A |
No information
|
| Hemoglobin C homozygous (CC) |
N/A |
N/A |
No information
|
| Hemoglobin D Homozygous (DD) |
N/A |
N/A |
No information
|
| Hemoglobin S/hemoglobin Lepore, Boston |
N/A |
N/A |
No information
|
| Hemoglobin E homozygous |
N/A |
N/A |
No information
|
| Hemoglobin S/hemoglobin O, Arab |
N/A |
N/A |
No information
|
| Hemoglobin, constant spring |
N/A |
N/A |
No information
|
| Hemoglobin H |
N/A |
N/A |
No information
|
| Hereditary methemoglobinemia, recessive, type II |
N/A |
N/A |
No information
|
| Hereditary methemoglobinemia, recessive |
N/A |
N/A |
No information
|
| Heterocellular hereditary persistence of fetal hemoglobin, Swiss type |
N/A |
N/A |
No information
|
| Hereditary persistence of fetal hemoglobin |
N/A |
N/A |
No information
|
| Hemoglobin F, Hereditary persistence of, heterocellular |
N/A |
N/A |
No information
|
| Hemoglobin F, Hereditary persistence of, pancellular |
N/A |
N/A |
No information
|
| Hemoglobin C disease |
N/A |
N/A |
No information
|
| Methemoglobinemia, beta-globin type |
N/A |
N/A |
No information
|
| Thalassemia minima |
N/A |
N/A |
No information
|
| Familial Mediterranean fever |
N/A |
N/A |
estimated 1 per 250 - 1,000 people of Armenian, Arabic, Turkish, Jewish and Mediterranean ancestry suffer from Familial Mediterranean Fever, Genetics Home Reverence website
|
| Candidiasis familial chronic mucocutaneous, autosomal dominant, with thyroid disease |
N/A |
N/A |
No information
|
| Familial Eosinophilic Cellulitis |
N/A |
N/A |
No information
|
| Congenital Disorder of Glycosylation, Type 1n |
N/A |
N/A |
No information
|
| Congenital Disorder of Glycosylation, Type 1o |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 2A |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type 1B |
N/A |
N/A |
No information
|
| Sarcoglycanopathy |
N/A |
N/A |
No information
|
| PEPCK 1 deficiency |
N/A |
N/A |
No information
|
| PEPCK 2 deficiency |
N/A |
N/A |
No information
|
| PEPCK Deficiency |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation type X -- Bombay blood group phenotype |
N/A |
N/A |
No information
|
| Membranoproliferative glomerulonephritis, X-linked |
N/A |
N/A |
No information
|
| Congenital disorder of glycosylation, type In |
N/A |
N/A |
No information
|
| Nephrolithiasis type 1 |
N/A |
N/A |
No information
|
| Nephrolithiasis type 2 |
N/A |
N/A |
No information
|
| Familial hypertryptophanemia |
N/A |
N/A |
No information
|
| Hereditary hyperuricemia |
N/A |
N/A |
No information
|
| Alpha-sarcoglycanopathy |
N/A |
N/A |
No information
|
| Glutaric aciduria type II |
N/A |
N/A |
No information
|
| Hyperimidodipeptiduria |
N/A |
N/A |
No information
|
| Sphingolipidosis |
N/A |
N/A |
No information
|
| Hypocalciuric hypercalcemia, familial, type 2 |
N/A |
N/A |
No information
|
| Hypocalciuric hypercalcemia, familial, type 1 |
N/A |
N/A |
No information
|
| Hypocalciuric hypercalcemia, familial, type 3 |
N/A |
N/A |
No information
|
| FG syndrome 1 |
N/A |
N/A |
No information
|
| FG syndrome 2 |
N/A |
N/A |
No information
|
| FG syndrome 3 |
N/A |
N/A |
No information
|
| FG syndrome 4 |
N/A |
N/A |
No information
|
| FG syndrome 5 |
N/A |
N/A |
No information
|
| PTEN Hamartoma Tumor Syndrome |
N/A |
N/A |
No information
|
| Gastric cancer, borrmann 4 |
N/A |
N/A |
No information
|
| Hypocalciuric hypercalcemia, familial |
N/A |
N/A |
No information
|
| Familial isolated deficiency of vitamin E |
N/A |
N/A |
No information
|
| Mitral valve prolapse, familial, X-linked |
N/A |
N/A |
No information
|
| Mitral valve prolapse, myxomatous 1 |
N/A |
N/A |
No information
|
| Mitral valve prolapse, myxomatous 2 |
N/A |
N/A |
No information
|
| Mitral valve prolapse, myxomatous 3 |
N/A |
N/A |
No information
|
| Cerebellar ataxia, autosomal recessive |
N/A |
N/A |
No information
|
| Cerebellar ataxia type 1, autosomal recessive |
N/A |
N/A |
No information
|
| Cerebellar ataxia, X-linked |
N/A |
N/A |
No information
|
| Cerebellar ataxia, dominant pure |
N/A |
N/A |
No information
|
| Simpson-Golabi-Behmel syndrome |
N/A |
N/A |
No information
|
| Brugada syndrome 1 |
N/A |
N/A |
No information
|
| Brugada syndrome 2 |
N/A |
N/A |
No information
|
| Brugada syndrome 3 |
N/A |
N/A |
No information
|
| Brugada syndrome 4 |
N/A |
N/A |
No information
|
| Adrenal adenoma, familial |
N/A |
N/A |
No information
|
| Trichoepithelioma multiple familial |
N/A |
N/A |
No information
|
| Nevoid basal cell carcinoma syndrome |
N/A |
N/A |
No information
|
| Steatocystoma multiplex |
N/A |
N/A |
No information
|
| Prolactinoma, familial |
N/A |
N/A |
No information
|
| Familial primary cryofibrinogenemia |
N/A |
N/A |
No information
|
| Hypofibrinogenemia, familial |
N/A |
N/A |
No information
|
| Hypertryptophanemia |
N/A |
N/A |
No information
|
| Anemia, Blackfan Diamond |
N/A |
N/A |
No information
|
| Hyperprolinaemia type I |
N/A |
N/A |
No information
|
| Choroideremia |
N/A |
N/A |
No information
|
| X-linked sideroblastic anemia |
N/A |
N/A |
several hundred cases of X-linked sideroblastic anemia have been reported worldwide, Genetics Home Reference website
|
| Familial hyperchylomicronemia |
N/A |
N/A |
1 per 1 million suffer from familial lipoprotein lipase deficiency worldwide, Genetics Home Reference website
|
| Pierre Robin's sequence |
N/A |
N/A |
No information
|
| Pierre-Robin syndrome with fetal chondrodysplasia |
N/A |
N/A |
only a few cases of Weissenbacher-Zweymuller syndrome have been reported worldwide, Genetics Home Reference website
|
| Cooley syndrome |
N/A |
N/A |
No information
|
| Diamond-Blackfan anemia |
N/A |
N/A |
No information
|
| Hereditary non-spherocytic hemolytic anemia |
N/A |
N/A |
No information
|
| X-linked mental retardation craniofacial abnormal microcephaly club |
N/A |
N/A |
No information
|
| Von Willebrand disease, recessive form |
N/A |
N/A |
No information
|
| Von Willebrand disease, dominant form |
N/A |
N/A |
No information
|
| Hyperglycerolemia, infantile form |
N/A |
N/A |
No information
|
| Hyperimmunoglobulinemia E |
N/A |
N/A |
No information
|
| Hyperglycerolemia, adult form |
N/A |
N/A |
No information
|
| Sideroblastic anemia, hereditary |
N/A |
N/A |
No information
|
| Hyperglycerolemia |
N/A |
N/A |
No information
|
| Thiamine responsive megaloblastic anemia syndrome |
N/A |
N/A |
No information
|
| Hyperglycerolemia, juvenile form |
N/A |
N/A |
No information
|
| Mycosis fungoides, familial |
N/A |
N/A |
No information
|
| Fanconi anemia type C |
N/A |
N/A |
No information
|
| Refsum disease, infantile form |
N/A |
N/A |
No information
|
| Sialidosis type II |
N/A |
N/A |
No information
|
| Sialidosis type II, congenital |
N/A |
N/A |
No information
|
| Sialidosis type II, juvenile |
N/A |
N/A |
No information
|
| Sialidosis type I |
N/A |
N/A |
No information
|
| Sialidosis type II, infantile |
N/A |
N/A |
No information
|
| Sialidosis type 2 |
N/A |
N/A |
No information
|
| Sialidosis type 1 |
N/A |
N/A |
No information
|
| Sialidosis type 1 and 3 |
N/A |
N/A |
No information
|
| Leber optic atrophy |
N/A |
N/A |
No information
|
| Combined hyperlipidemia, familial |
N/A |
N/A |
No information
|
| Atransferrinemia |
N/A |
N/A |
No information
|
| Delta-sarcoglycanopathy |
N/A |
N/A |
No information
|
| Sitosterolemia |
N/A |
N/A |
No information
|
| Aceruloplasminemia |
N/A |
N/A |
No information
|
| Hypoketonemic hypoglycemia |
N/A |
N/A |
No information
|
| Congenital aplastic anemia |
N/A |
N/A |
No information
|
| Adenosine deaminase, elevated, hemolytic anemia due to |
N/A |
N/A |
No information
|
| Debler anemia |
N/A |
N/A |
No information
|
| Acatalasemia |
N/A |
N/A |
No information
|
| Anaemia due to pyrimidine 5' nucleotidase deficiency |
N/A |
N/A |
No information
|
| Anaemia, sideroblastic, X-linked -- ataxia |
N/A |
N/A |
No information
|
| Familial dysalbuminemic hyperthyroxinemia |
N/A |
N/A |
No information
|
| Hypomagnesemia caused by selective magnesium malabsorption |
N/A |
N/A |
No information
|
| Obesity due to prohormone convertase-I deficiency |
N/A |
N/A |
No information
|
| Hypomagnesemia with normocalciuria |
N/A |
N/A |
No information
|
| X-linked dyserythropoietic anaemia and thrombocytopenia |
N/A |
N/A |
No information
|
| Bisalbuminemia, inherited |
N/A |
N/A |
No information
|
| Neuroacanthocytosis |
N/A |
N/A |
No information
|
| Hereditary spherocytosis |
N/A |
N/A |
No information
|
| Xerocytosis, heriditary |
N/A |
N/A |
No information
|
| Spherocytic hereditary elliptocytosis |
N/A |
N/A |
No information
|
| Mild hereditary elliptocytosis |
N/A |
N/A |
No information
|
| Hereditary pyropoikilocytosis |
N/A |
N/A |
No information
|
| Stomatocytic hereditary elliptocytosis |
N/A |
N/A |
No information
|
| Mild hereditary elliptocytosis in infancy |
N/A |
N/A |
No information
|
| Hereditary elliptocytosis |
N/A |
N/A |
No information
|
| Hemophagocytic lymphohistiocytosis, familial, 2 |
N/A |
N/A |
No information
|
| Hemophagocytic lymphohistiocytosis, familial, 3 |
N/A |
N/A |
No information
|
| Hemophagocytic lymphohistiocytosis, familial, 4 |
N/A |
N/A |
No information
|
| Hemophagocytic lymphohistiocytosis, familial, 1 |
N/A |
N/A |
No information
|
| Hemophagocytic Lymphohistiocytosis |
N/A |
N/A |
No information
|
| Overhydrated hereditary stomatocytosis |
N/A |
N/A |
No information
|
| Familial erythrocytosis, 1 |
N/A |
N/A |
No information
|
| Familial erythrocytosis, 2 |
N/A |
N/A |
No information
|
| Elliptocytosis 1 |
N/A |
N/A |
No information
|
| Familial erythrocytosis, 3 |
N/A |
N/A |
No information
|
| Familial erythrocytosis, 4 |
N/A |
N/A |
No information
|
| Homocytsinuria due to defect in methylation cbl e |
N/A |
N/A |
No information
|
| Phenylketonuria type 2 |
N/A |
N/A |
No information
|
| Iminoglycinuria |
N/A |
N/A |
No information
|
| Inborn renal aminoaciduria |
N/A |
N/A |
No information
|
| Renal glucosuria |
N/A |
N/A |
No information
|
| Hypotonia-cystinuria syndrome |
N/A |
N/A |
No information
|
| Leiomyoma, hereditary multiple, of skin |
N/A |
N/A |
No information
|
| Porphyria Cutanea Tarda -- familial |
N/A |
N/A |
No information
|
| Erythropoietic Protoporphyria |
N/A |
N/A |
No information
|
| Protoporphyria erythropoietic |
N/A |
N/A |
No information
|
| Porphyria cutanea tarda, familial type |
N/A |
N/A |
1-2 per 100,000 people are affected by porphyria cutanea tarda, Genetics Home Reference website
|
| Porphyria, congenital erythropoietic |
N/A |
N/A |
No information
|
| Childhood-onset cerebral X-linked adrenoleukodystrophy |
N/A |
N/A |
No information
|
| Porphyria, hereditary coproporphyria |
N/A |
N/A |
No information
|
| Protoporphyria |
N/A |
N/A |
No information
|
| Dementia, familial British |
N/A |
N/A |
No information
|
| Hereditary non-progressive cerebellar ataxia syndrome of early onset |
N/A |
N/A |
No information
|
| Early-onset non-progressive cerebellar ataxia syndrome, dominantly inherited |
N/A |
N/A |
No information
|
| Hereditary cerebellar ataxia syndrome of early onset |
N/A |
N/A |
No information
|
| Myelocerebellar disorder |
N/A |
N/A |
No information
|
| Myoclonus, cerebellar ataxia, deafness |
N/A |
N/A |
No information
|
| Familial polyposis, autosomal recessive |
N/A |
N/A |
1 per 30,000 people are affected by familial adenomatous polyposis in the US, Genetics Home Reference website
|
| Familial polyposis -- classical |
N/A |
N/A |
No information
|
| Attenuated familial polyposis |
N/A |
N/A |
No information
|
| Leukodystrophy, pseudometachromatic |
N/A |
N/A |
No information
|
| X-linked adrenoleukodystrophy -- Addison disease only |
N/A |
N/A |
No information
|
| Adrenoleukodystrophy, autosomal, neonatal form |
N/A |
N/A |
No information
|
| Canavan leukodystrophy |
N/A |
N/A |
No information
|
| Leukodystrophy with oligodontia |
N/A |
N/A |
No information
|
| Copper deficiency, familial benign |
N/A |
N/A |
No information
|
| Medullary cystic kidney disease, autosomal recessive |
N/A |
N/A |
No information
|
| Van Bogaert-Scherer-Epstein Disease |
N/A |
N/A |
No information
|
| Van Bogaert's disease |
N/A |
N/A |
No information
|
| Van Bogaert disease |
N/A |
N/A |
No information
|
| Nyssen-Van Bogaert syndrome |
N/A |
N/A |
No information
|
| Nyssen-Van Bogaert-Meyer syndrome |
N/A |
N/A |
No information
|
| Hereditary ataxia |
N/A |
N/A |
No information
|
| Thrombasthenia |
N/A |
N/A |
No information
|
| Lymphedema, hereditary |
N/A |
N/A |
No information
|
| Purpura simplex, hereditary |
N/A |
N/A |
No information
|
| Epiphyseal dysplasia, multiple |
N/A |
N/A |
No information
|
| Multiple epiphyseal dysplasia |
N/A |
N/A |
No information
|
| Epiphyseal dysplasia, multiple, 4 |
N/A |
N/A |
No information
|
| Spondyloepiphyseal dysplasia tarda, autosomal dominant |
N/A |
N/A |
No information
|
| Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive |
N/A |
N/A |
No information
|
| Oto-spondylo-megaepiphyseal dysplasia, homozygous |
N/A |
N/A |
No information
|
| Spondyloepiphyseal dysplasia tarda |
N/A |
N/A |
No information
|
| Pachyonychia congenital syndrome type II |
N/A |
N/A |
No information
|
| Metaphyseal dysplasia Pyle type |
N/A |
N/A |
No information
|
| Otospondylomegaepiphyseal dysplasia |
N/A |
N/A |
only a few families have been reported with otospondylomegaepiphyseal dysplasia, Genetics Home Reference website
|
| Angiopathy, hereditary, with nephropathy, aneurysms and muscle cramps |
N/A |
N/A |
No information
|
| Nephronophtisis familial, adult form -- spastic quadriparesia |
N/A |
N/A |
No information
|
| Finnish nephrosis syndrome |
N/A |
N/A |
No information
|
| Keratitis, hereditary |
N/A |
N/A |
No information
|
| Danubian endemic familial nephropathy |
N/A |
N/A |
No information
|
| Cleft palate, X-linked |
N/A |
N/A |
No information
|
| Inverted smile -- occult nephropathic bladder |
N/A |
N/A |
No information
|
| Hydronephrosis with Peculiar Facies |
N/A |
N/A |
No information
|
| Renal dysplasia diffuse autosomal recessive |
N/A |
N/A |
No information
|
| Multicystic Renal Dysplasia |
N/A |
N/A |
No information
|
| Renal adysplasia dominant type |
N/A |
N/A |
No information
|
| Bilateral renal agenesis dominant type |
N/A |
N/A |
No information
|
| Renal agenesis, bilateral |
N/A |
N/A |
No information
|
| Glomerulopathy with fibronectin deposits |
N/A |
N/A |
No information
|
| Simpson-Golabi-Behmel syndrome, type 2 |
N/A |
N/A |
No information
|
| Simpson-Golabi-Behmel syndrome, type 1 (SGBS1) |
N/A |
N/A |
No information
|
| Pseudohypoaldosteronism type 1, autosomal dominant |
N/A |
N/A |
No information
|
| Pseudohypoaldosteronism type 1, autosomal recessive |
N/A |
N/A |
No information
|
| Chondrocalcinosis 1 |
N/A |
N/A |
No information
|
| Chondrocalcinosis 2 |
N/A |
N/A |
No information
|
| Miescher's syndrome |
N/A |
N/A |
No information
|
| Developmental malformations -- deafness -- dystonia |
N/A |
N/A |
No information
|
| Vesicoureteral Reflux 1 |
N/A |
N/A |
No information
|
| Dyschromatosis Universalis Hereditaria 1 |
N/A |
N/A |
No information
|
| Dyschromatosis Universalis Hereditaria 2 |
N/A |
N/A |
No information
|
| Intractable diarrhea with enterocytes assembly abnormalities, congenital, familial |
N/A |
N/A |
No information
|
| Intractable diarrhea of infancy (generic term) |
N/A |
N/A |
No information
|
| Arterial dissection -- lentiginosis |
N/A |
N/A |
No information
|
| Heterotopia, Periventricular, Associated with Chromosome 5q Deletion |
N/A |
N/A |
No information
|
| Keratosis follicularis Spinulosa Decalvans, X-Linked |
N/A |
N/A |
No information
|
| Keratosis follicularis Spinulosa Decalvans, Autosomal Dominant |
N/A |
N/A |
No information
|
| Ectodermal dysplasia, anhidrotic with T-cell immunodeficiency, autosomal dominant |
N/A |
N/A |
No information
|
| Juvenile Paget's Disease |
N/A |
N/A |
No information
|
| Oppenheim's dystonia |
N/A |
N/A |
No information
|
| Gullner Syndrome |
N/A |
N/A |
No information
|
| Trigeminal anesthesia, familial |
N/A |
N/A |
No information
|
| Sebaceous gland hyperplasia, familial presenile |
N/A |
N/A |
No information
|
| Apparent mineralocorticoid excess |
N/A |
N/A |
No information
|
| Minicore disease |
N/A |
N/A |
No information
|
| Lynch syndrome II |
N/A |
N/A |
No information
|
| Lynch syndrome I |
N/A |
N/A |
No information
|
| Lynch Syndromes |
N/A |
N/A |
No information
|
| NOMID syndrome |
N/A |
N/A |
No information
|
| Macules hereditary congenital hypopigmented hyperpigmented |
N/A |
N/A |
No information
|
| Precalicial canalicular ectasia |
N/A |
N/A |
No information
|
| Gloomy syndrome |
N/A |
N/A |
No information
|
| Gloomy face syndrome |
N/A |
N/A |
No information
|
| Zunich-Kaye syndrome |
N/A |
N/A |
No information
|
| FRAXD |
N/A |
N/A |
No information
|
| Barrow-Fitzsimmons Syndrome |
N/A |
N/A |
No information
|
| Hereditary paroxysmal cerebral ataxia |
N/A |
N/A |
No information
|
| Leiomyomatosis, Esophagogastric and Vulvar |
N/A |
N/A |
No information
|
| Wolman Disease with Hypolipoproteinemia and Acanthocytosis |
N/A |
N/A |
No information
|
| Myasthenia, familial |
N/A |
N/A |
No information
|
| Tetra-Amelia, Autosomal Recessive |
N/A |
N/A |
No information
|
| Right pulmonary artery, anomalous origin of, familial |
N/A |
N/A |
No information
|
| Familial Granulomatosis, Blau type |
N/A |
N/A |
No information
|
| Familial, Systemic, Juvenile Granulomatosis |
N/A |
N/A |
No information
|
| Cystoid Macular Edema |
N/A |
N/A |
No information
|
| Cystoid Macular Dystrophy |
N/A |
N/A |
No information
|
| Idiopathic dystonia DYT1 |
N/A |
N/A |
No information
|
| Unverricht-Lundborg disease |
N/A |
N/A |
No information
|
| Unverricht-Lundborg syndrome |
N/A |
N/A |
No information
|
| Schimmelpenning-Feurstein-Mims Syndrome |
N/A |
N/A |
No information
|
| Hyperreninemic Hypoaldosteronism, Familial 2 |
N/A |
N/A |
No information
|
| Hypoaldosteronism, familial |
N/A |
N/A |
No information
|
| Apelt-Gerkin-Lenz Syndrome |
N/A |
N/A |
No information
|
| OI, Type I |
N/A |
N/A |
No information
|
| Familial Treacher Collins syndrome |
N/A |
N/A |
No information
|
| Autosomal Recessive Tetra-Amelia |
N/A |
N/A |
No information
|
| Focal Familial Palmoplantar Keratoderma with Punctate Hyperkeratosis of the Palmar Creases |
N/A |
N/A |
No information
|
| CML-Like Syndrome, Familial |
N/A |
N/A |
No information
|
| Lynch Syndrome 1 |
N/A |
N/A |
No information
|
| Congenital myasthenic syndromes |
N/A |
N/A |
No information
|
| Thrombocytopenia -- Multiple Congenital Anomalies |
N/A |
N/A |
No information
|
| Scheuermann juvenile Kyphosis, familial |
N/A |
N/A |
No information
|
| Pulmonary nodular lymphoid hyperplasia, familial |
N/A |
N/A |
No information
|
| Lawrence-Seuo syndrome |
N/A |
N/A |
No information
|
| Multiminicore disease (MmD) |
N/A |
N/A |
No information
|
| Beradinelli-Seip congenital lipodystrophy |
N/A |
N/A |
No information
|
| Reactive perforating collagenosis, familial |
N/A |
N/A |
No information
|
| Beare-Stevenson cutis gyrate syndrome |
N/A |
N/A |
No information
|
| Apparent Mineralocorticoid Excess, type 2 |
N/A |
N/A |
No information
|
| Encephalopathy due to GLUT1 deficiency |
N/A |
N/A |
No information
|
| Ramos-Arroyo Syndrome |
N/A |
N/A |
No information
|
| Scapuloperoneal syndrome, neurogenic type |
N/A |
N/A |
No information
|
| Neuropathy, Hereditary Sensory, Type IV |
N/A |
N/A |
No information
|
| Neuropathy, hereditary, sensory, radicular |
N/A |
N/A |
No information
|
| Osteolysis hereditary multicentric |
N/A |
N/A |
No information
|
| Focal facial dermal dysplasia, type I |
N/A |
N/A |
No information
|
| Torticollis, keloids, cryptorchidism, renal dysplasia |
N/A |
N/A |
No information
|
| Humeroradial synostosis syndrome |
N/A |
N/A |
No information
|
| Tapetal-like reflex |
N/A |
N/A |
No information
|
| Lundberg I |
N/A |
N/A |
No information
|
| Chondrodystrophia punctata, autosomal dominant |
N/A |
N/A |
No information
|
| Wolfram's disease |
N/A |
N/A |
No information
|
| Neurofibromatosis-2 |
N/A |
N/A |
1 per 25,000 people suffer from neurofibromatosis type 2, Genetics Home Reference website
|
| Segmental neurofibromatosis |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive |
N/A |
N/A |
No information
|
| Snowflake vitreoretinal degeneration |
N/A |
N/A |
No information
|
| Peripheral type neurofibromatosis |
N/A |
N/A |
No information
|
| Neurofibromatosis, type 4, of Riccardi |
N/A |
N/A |
No information
|
| Neurofibromatosis type 3A |
N/A |
N/A |
No information
|
| Neurofibromatosis type 3B |
N/A |
N/A |
No information
|
| Neurofibromatosis type 6 |
N/A |
N/A |
No information
|
| Neurofibromatosis Type 1 (NF-1) |
N/A |
N/A |
No information
|
| Neurofibromatosis syndrome Type II |
N/A |
N/A |
No information
|
| Neurofibromatosis syndrome |
N/A |
N/A |
No information
|
| Dystrophia myotonica 1 |
N/A |
N/A |
No information
|
| Vitreoretinochoroidopathy dominant |
N/A |
N/A |
No information
|
| Lymphedema, congenital recessive |
N/A |
N/A |
No information
|
| Mendelian susceptibility to atypical mycobacteria |
N/A |
N/A |
No information
|
| Macular dystrophy, retinal, 1, North Carolina type |
N/A |
N/A |
No information
|
| Familial hypothyroidism |
N/A |
N/A |
No information
|
| Lipodystrophy, familial partial, due to AKT2 mutations |
N/A |
N/A |
No information
|
| Microvillus Inclusion Disease |
N/A |
N/A |
No information
|
| Peroxisomal Biogenesis Disorders |
N/A |
N/A |
No information
|
| Peroxisome biogenesis disorders |
N/A |
N/A |
No information
|
| Peroxisomal defects |
N/A |
N/A |
No information
|
| Robinow Syndrome |
N/A |
N/A |
No information
|
| Robinow syndrome, recessive form |
N/A |
N/A |
No information
|
| Robinow syndrome, autosomal recessive |
N/A |
N/A |
No information
|
| Robinow Sorauf syndrome |
N/A |
N/A |
No information
|
| Liver disease -- retinitis pigmentosa -- polyneuropathy -- epilepsy |
N/A |
N/A |
No information
|
| Alport syndrome with macrothrombocytopenia |
N/A |
N/A |
No information
|
| Alport Syndrome |
N/A |
N/A |
1 per 50,000 newborns suffer from Alport syndrome, Genetics Home Reference website
|
| Alport syndrome, recessive type |
N/A |
N/A |
No information
|
| Aplasia of lacrimal and salivary glands |
N/A |
N/A |
No information
|
| Amelia, autosomal recessive |
N/A |
N/A |
No information
|
| Dent syndrome |
N/A |
N/A |
No information
|
| Hereditary primary Fanconi disease |
N/A |
N/A |
No information
|
| Anonychia |
N/A |
N/A |
No information
|
| Anophthalmia cleft lip palate hypothalamic disorder |
N/A |
N/A |
No information
|
| Heterotopia, periventricular, associated with chromosome 5p anomalies |
N/A |
N/A |
No information
|
| Craniosynostosis autosomal dominant |
N/A |
N/A |
No information
|
| Griscelli disease |
N/A |
N/A |
No information
|
| Griscelli syndrome type III |
N/A |
N/A |
No information
|
| Griscelli syndrome type I |
N/A |
N/A |
No information
|
| Griscelli syndrome type II |
N/A |
N/A |
No information
|
| Alport syndrome, dominant type |
N/A |
N/A |
No information
|
| Achalasia, familial esophageal |
N/A |
N/A |
No information
|
| Short rib-polydactyly syndrome, Saldino-Noonan type |
N/A |
N/A |
No information
|
| Roberts-SC Phocomelia |
N/A |
N/A |
No information
|
| Dentin dysplasia -- sclerotic bones |
N/A |
N/A |
No information
|
| Ectrodactyly, recessive form |
N/A |
N/A |
No information
|
| Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate |
N/A |
N/A |
No information
|
| Ectrodactyly dominant form |
N/A |
N/A |
No information
|
| Acro-pectoro-renal field defect |
N/A |
N/A |
No information
|
| Neural tube defects X-linked |
N/A |
N/A |
No information
|
| Spastic paraplegia with precocious puberty |
N/A |
N/A |
No information
|
| Laterality defects dominant |
N/A |
N/A |
No information
|
| Spondylocostal dysostosis with anal atresia and urogenital anomalies |
N/A |
N/A |
No information
|
| Familial intestinal polyatresia syndrome |
N/A |
N/A |
No information
|
| Amelogenesis Imperfecta 2, hypoplastic local, autosomal dominant |
N/A |
N/A |
No information
|
| Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1 |
N/A |
N/A |
No information
|
| Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 |
N/A |
N/A |
No information
|
| Amelogenesis imperfecta, local hypoplastic form, recessive |
N/A |
N/A |
No information
|
| Familial porencephaly |
N/A |
N/A |
No information
|
| Ectrodactyly ectrodermal dysplasia |
N/A |
N/A |
No information
|
| Familial patella aplasia-hypoplasia |
N/A |
N/A |
No information
|
| Palant cleft palate syndrome |
N/A |
N/A |
No information
|
| Meningeal angiomatosis -- cleft hypoplastic left heart |
N/A |
N/A |
No information
|
| Multiple Hereditary Exostoses |
N/A |
N/A |
No information
|
| Exostoses, multiple |
N/A |
N/A |
No information
|
| Exostoses |
N/A |
N/A |
No information
|
| Exostoses, multiple, type 1 |
N/A |
N/A |
No information
|
| Exostoses, multiple, type 3 |
N/A |
N/A |
No information
|
| Exostoses -- anetodermia -- brachydactyly type E |
N/A |
N/A |
No information
|
| Blood coagulation disorders, inherited |
N/A |
N/A |
No information
|
| Laron Dwarfism |
N/A |
N/A |
No information
|
| Laron Type Pituitary Dwarfism 1 |
N/A |
N/A |
No information
|
| Laron Pituitary Dwarfism |
N/A |
N/A |
No information
|
| Laron-type Dwarfism Phenotypic Syndrome |
N/A |
N/A |
No information
|
| Laron-type dwarfism |
N/A |
N/A |
No information
|
| Laron syndrome type 1 |
N/A |
N/A |
No information
|
| Laron syndrome type 2 |
N/A |
N/A |
No information
|
| Laron Syndrome |
N/A |
N/A |
No information
|
| Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome |
N/A |
N/A |
No information
|
| Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1 |
N/A |
N/A |
No information
|
| Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 |
N/A |
N/A |
No information
|
| Distal hereditary motor neuropathy, type V |
N/A |
N/A |
only a few cases of distal hereditary motor neuropathy, type V have been reported, Genetics Home Reference website
|
| Cerebral Amyloid Angiopathy, Familial |
N/A |
N/A |
No information
|
| Amyloid angiopathy |
N/A |
N/A |
No information
|
| Amyloid cardiopathy, familial |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor, type VIIA |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor, type III |
N/A |
N/A |
No information
|
| Neuropathy, Hereditary Sensory, Type II |
N/A |
N/A |
No information
|
| Neuropathy, Hereditary Sensory and Autonomic Type I |
N/A |
N/A |
No information
|
| Neuropathy, Hereditary Sensory, Type I |
N/A |
N/A |
No information
|
| Congenital hypomyelination neuropathy |
N/A |
N/A |
No information
|
| Corpus callosum agenesis-neuropathy |
N/A |
N/A |
No information
|
| Leber hereditary optic neuropathy |
N/A |
N/A |
1 per 30,000 - 50,000 people suffer from Leber hereditary optic neuropathy in northeast England and Finland, Genetics Home Reference website
|
| Partial androgen insensitivity |
N/A |
N/A |
partial androgen insensitivity occurs in at least 2-5 per 100,000 live male births, Genetics Home Reference website
|
| Ellis-van Creveld syndrome |
N/A |
N/A |
1 per 60,000 - 200,000 newborns are affected by Ellis-van Creveld syndrome worldwide, Genetics Home Reference website
|
| Chondroectodermal dysplasia |
N/A |
N/A |
No information
|
| Night blindness, congenital stationary, autosomal dominant |
N/A |
N/A |
No information
|
| Night blindness, congenital stationary |
N/A |
N/A |
No information
|
| Night blindness, congenital stationary, type 1A |
N/A |
N/A |
No information
|
| Night blindness, congenital stationary, type 2B |
N/A |
N/A |
No information
|
| Coarctation of aorta dominant |
N/A |
N/A |
No information
|
| Myoclonic dystonia |
N/A |
N/A |
No information
|
| Familial amyloid polyneuropathy |
N/A |
N/A |
No information
|
| Fanconi pancytopenia |
N/A |
N/A |
No information
|
| Facial paresis, hereditary, congenital |
N/A |
N/A |
No information
|
| Familial myelofibrosis |
N/A |
N/A |
No information
|
| Palmoplantar keratoderma punctate, hereditary |
N/A |
N/A |
No information
|
| Palmoplantar keratoderma -- XX sex reversal -- predisposition to squamous cell carcinoma |
N/A |
N/A |
No information
|
| Diffuse palmoplantar keratoderma, Norrbotten dominant type |
N/A |
N/A |
No information
|
| Keratoderma palmoplantar, Norrbotten recessive type |
N/A |
N/A |
No information
|
| Acrokeratosis verruciformis of Hopf |
N/A |
N/A |
No information
|
| Hyperkeratosis -- hyperpigmentation syndrome |
N/A |
N/A |
No information
|
| Dyskeratosis Congenita |
N/A |
N/A |
No information
|
| Epidermolytic Hyperkeratosis |
N/A |
N/A |
No information
|
| Dyskeratosis congenita of Zinsser-Cole-Engman |
N/A |
N/A |
No information
|
| Acrorenal syndrome |
N/A |
N/A |
No information
|
| Vasterbotten dystrophy |
N/A |
N/A |
No information
|
| Weary Syndrome |
N/A |
N/A |
No information
|
| Chediak-Higashi like syndrome |
N/A |
N/A |
No information
|
| Spondylohypoplasia arthrogryposis popliteal pterygium |
N/A |
N/A |
No information
|
| Congenital fiber type disproportion |
N/A |
N/A |
No information
|
| De la Chapelle syndrome |
N/A |
N/A |
No information
|
| Achondrogenesis type 1A |
N/A |
N/A |
No information
|
| Achondrogenesis type 2 |
N/A |
N/A |
No information
|
| Quebec platelet disorder |
N/A |
N/A |
No information
|
| Achondrogenesis, Langer-Saldino Type |
N/A |
N/A |
No information
|
| Achondrogenesis type 1B |
N/A |
N/A |
No information
|
| X-linked hydrocephalus spectrum |
N/A |
N/A |
No information
|
| Achondrogenesis type 1A and 1B |
N/A |
N/A |
No information
|
| Type II Achondrogenesis-Hypochondrogenesis |
N/A |
N/A |
No information
|
| Atelosteogenesis, type 1 |
N/A |
N/A |
No information
|
| Atelosteogenesis Type III |
N/A |
N/A |
No information
|
| Atelosteogenesis, type 2 |
N/A |
N/A |
No information
|
| Achondrogenesis |
N/A |
N/A |
1 per 40,000 - 60,000 people are affected by achondrogenesis type 2 and hypochondrogenesis, Genetics Home Reference website
|
| Achondrogenesis, type 3 |
N/A |
N/A |
No information
|
| Achondrogenesis, type 4 |
N/A |
N/A |
No information
|
| Torsion dystonia, autosomal dominant |
N/A |
N/A |
No information
|
| Hereditary peripheral nervous disorder |
N/A |
N/A |
No information
|
| Apraxia, oculomotor, Cogan type |
N/A |
N/A |
No information
|
| Familial hypersecretion of adrenal androgens |
N/A |
N/A |
No information
|
| Hyperandrogenism |
N/A |
N/A |
No information
|
| Androgen insensitivity syndrome, partial |
N/A |
N/A |
No information
|
| Platelet disorder, familial, with associated myeloid malignancy |
N/A |
N/A |
No information
|
| Epileptic encephalopathy, Lennox-Gastaut type |
N/A |
N/A |
No information
|
| Hemangiomatosis, familial pulmonary capillary |
N/A |
N/A |
No information
|
| Goodman camptodactyly |
N/A |
N/A |
No information
|
| Aplasia cutis congenita dominant |
N/A |
N/A |
No information
|
| Primary cortisol resistance |
N/A |
N/A |
No information
|
| FSH-resistant ovaries (FSH-RO) |
N/A |
N/A |
No information
|
| Generalized resistance to thyroid hormone |
N/A |
N/A |
No information
|
| Resistance to LH (luteinizing hormone) |
N/A |
N/A |
No information
|
| Pseudoachondroplasia |
N/A |
N/A |
No information
|
| Malignant hyperthermia |
N/A |
N/A |
No information
|
| Malignant hyperthermia susceptibility type 1 |
N/A |
N/A |
No information
|
| Malignant hyperthermia susceptibility type 2 |
N/A |
N/A |
No information
|
| Malignant hyperthermia susceptibility type 3 |
N/A |
N/A |
No information
|
| Malignant hyperthermia susceptibility type 4 |
N/A |
N/A |
No information
|
| Malignant hyperthermia susceptibility type 5 |
N/A |
N/A |
No information
|
| Malignant hyperthermia susceptibility type 6 |
N/A |
N/A |
No information
|
| ICF syndrome |
N/A |
N/A |
No information
|
| Von Willebrand disease, platelet type |
N/A |
N/A |
No information
|
| White platelet syndrome |
N/A |
N/A |
No information
|
| Gray platelet syndrome |
N/A |
N/A |
No information
|
| Hanhart syndrome type II |
N/A |
N/A |
No information
|
| Hanhart syndrome type IV |
N/A |
N/A |
No information
|
| Hanhart Syndrome |
N/A |
N/A |
No information
|
| Hanhart syndrome type III |
N/A |
N/A |
No information
|
| Angioma hereditary neurocutaneous |
N/A |
N/A |
No information
|
| Osteoarthropathy of fingers, familial |
N/A |
N/A |
No information
|
| Red cell phospholipid defect with hemolysis |
N/A |
N/A |
No information
|
| D-minus hemolytic uremic syndrome (D-HUS) -- familial |
N/A |
N/A |
No information
|
| Cerebelloparenchymal autosomal recessive disorder 3 |
N/A |
N/A |
No information
|
| Cerebelloparenchymal disorder 3 |
N/A |
N/A |
No information
|
| Cerebelloparenchymal disorder V |
N/A |
N/A |
No information
|
| Cirrhosis, familial |
N/A |
N/A |
No information
|
| Glucose-galactose malabsorption |
N/A |
N/A |
No information
|
| Larsen syndrome, dominant type |
N/A |
N/A |
No information
|
| Larsen syndrome |
N/A |
N/A |
No information
|
| Larsen syndrome, recessive type |
N/A |
N/A |
No information
|
| Pseudoxanthoma elasticum, recessive form |
N/A |
N/A |
No information
|
| Pterygium syndrome multiple dominant type |
N/A |
N/A |
No information
|
| FG Syndrome |
N/A |
N/A |
No information
|
| Fraser Syndrome |
N/A |
N/A |
No information
|
| Shwachman-Diamond Syndrome |
N/A |
N/A |
No information
|
| De Barsy Syndrome |
N/A |
N/A |
No information
|
| Proteus Syndrome |
N/A |
N/A |
No information
|
| Pierre Robin Sequence |
N/A |
N/A |
No information
|
| Fountain Syndrome |
N/A |
N/A |
No information
|
| Cat's cry |
N/A |
N/A |
No information
|
| Cleidocranial dysplasia |
N/A |
N/A |
No information
|
| Fucosidosis type 1 |
N/A |
N/A |
No information
|
| ABCD syndrome |
N/A |
N/A |
No information
|
| Albright's hereditary osteodystrophy |
N/A |
N/A |
No information
|
| De Sanctis-Cacchione syndrome |
N/A |
N/A |
No information
|
| Acromesomelic dysplasia |
N/A |
N/A |
No information
|
| Langer mesomelic dysplasia |
N/A |
N/A |
No information
|
| HARD syndrome |
N/A |
N/A |
No information
|
| Familial dysautonomia |
N/A |
N/A |
No information
|
| Melnick-Needles syndrome |
N/A |
N/A |
No information
|
| Kabuki syndrome |
N/A |
N/A |
No information
|
| Diastrophic dysplasia |
N/A |
N/A |
estimated 1 per 100,000 newborns are affected by diastrophic dysplasia, Genetics Home Reference website
|
| Kartagener syndrome |
N/A |
N/A |
No information
|
| Metatropic dwarfism |
N/A |
N/A |
No information
|
| Whelan syndrome |
N/A |
N/A |
No information
|
| Miller-Dieker syndrome |
N/A |
N/A |
No information
|
| Marshall syndrome |
N/A |
N/A |
No information
|
| Bannayan-Zonana syndrome |
N/A |
N/A |
No information
|
| Mohr syndrome |
N/A |
N/A |
No information
|
| Leri-Weil syndrome |
N/A |
N/A |
No information
|
| Craniofrontonasal dysplasia |
N/A |
N/A |
No information
|
| Conradi-Hunermann syndrome |
N/A |
N/A |
No information
|
| Hereditary angioedema |
N/A |
N/A |
No information
|
| Empty sella syndrome -- primary |
N/A |
N/A |
No information
|
| Empty sella syndrome -- acquired |
N/A |
N/A |
No information
|
| Leigh syndrome |
N/A |
N/A |
No information
|
| IBIDS syndrome |
N/A |
N/A |
No information
|
| Pseudoxanthoma elasticum, dominant form |
N/A |
N/A |
No information
|
| Pseudoxanthoma elasticum, forme fruste |
N/A |
N/A |
No information
|
| Pseudoxanthoma elasticum |
N/A |
N/A |
1 per 25,000 - 100,000 people are affected by pseudoxanthoma elasticum, Genetics Home Reference website
|
| Xanthomatosis cerebrotendinous |
N/A |
N/A |
No information
|
| Pendred syndrome |
N/A |
N/A |
Pendred syndrome represents over 7% of all cases of hearing loss at birth, Genetics Home Reference website
|
| Gardner syndrome |
N/A |
N/A |
No information
|
| Hyperparathyroidism, primary |
N/A |
N/A |
No information
|
| Hyperbilirubinemia transient, familial, neonatal |
N/A |
N/A |
No information
|
| Lymphedema hereditary type 1 |
N/A |
N/A |
No information
|
| Lymphedema, hereditary, 1B |
N/A |
N/A |
No information
|
| Lymphedema distichiasis syndrome |
N/A |
N/A |
No information
|
| Pachyonychia congenital syndrome |
N/A |
N/A |
No information
|
| Popliteal pterygium syndrome |
N/A |
N/A |
No information
|
| Free sialic Acid storage disease |
N/A |
N/A |
No information
|
| Lipodystrophy, familial partial, type 1 (FPLD1) |
N/A |
N/A |
No information
|
| Familial rectal pain |
N/A |
N/A |
No information
|
| Truncus Arteriosus |
N/A |
N/A |
No information
|
| Persistent Truncus Arteriosus |
N/A |
N/A |
No information
|
| Arterial dissections with lentiginosis |
N/A |
N/A |
No information
|
| Severe combined immunodeficiency, X-linked |
N/A |
N/A |
1 per 50,000 - 100,000 births are affected by X-linked severe combined immunodeficiency, Genetics Home Reference website
|
| T-cell immunodeficiency primary |
N/A |
N/A |
No information
|
| Primary immunodeficiency disorders |
N/A |
N/A |
No information
|
| NEMO mutation with immunodeficiency |
N/A |
N/A |
No information
|
| Immunodeficiency due to selective anti-polysaccharide antibody deficiency |
N/A |
N/A |
No information
|
| Immunodeficiency, combined, severe, due to ZAP70 deficiency |
N/A |
N/A |
No information
|
| Spondylometaphyseal dysplasia, 'corner fracture' type |
N/A |
N/A |
No information
|
| Spondylometaphyseal dysplasia, X-linked |
N/A |
N/A |
No information
|
| VACTERL with hydrocephalus, X-linked |
N/A |
N/A |
No information
|
| VACTERL association |
N/A |
N/A |
No information
|
| VACTERYL hydrocephaly |
N/A |
N/A |
No information
|
| VACTERL association with hydrocephaly, X-linked |
N/A |
N/A |
No information
|
| Autoimmune polyendocrinopathy syndrome, type 1 |
N/A |
N/A |
No information
|
| Stickler's syndrome |
N/A |
N/A |
No information
|
| Stickler Syndrome |
N/A |
N/A |
estimated 1 per 7,500 - 9,000 newborns suffer from Stickler syndrome, Genetics Home Reference website
|
| Stickler Syndrome, type II |
N/A |
N/A |
No information
|
| Stickler Syndrome, type III |
N/A |
N/A |
No information
|
| Stickler Syndrome, type I |
N/A |
N/A |
No information
|
| Thanatophoric dysplasia, type 2 |
N/A |
N/A |
No information
|
| Thanatophoric dysplasia, type 1 |
N/A |
N/A |
No information
|
| Pseudohypoparathyroidism |
N/A |
N/A |
No information
|
| Tooth and Nail syndrome |
N/A |
N/A |
No information
|
| Muscle-eye-brain syndrome |
N/A |
N/A |
No information
|
| Non-diarrheal (D-) HUS syndrome |
N/A |
N/A |
No information
|
| Connective tissue dysplasia, Spellacy type |
N/A |
N/A |
No information
|
| Senior-Loken syndrome 5 |
N/A |
N/A |
No information
|
| Senior-Loken syndrome 6 |
N/A |
N/A |
No information
|
| Kenny-Caffey Syndrome |
N/A |
N/A |
No information
|
| Senior-Loken Syndrome |
N/A |
N/A |
No information
|
| Senior-Loken syndrome 4 |
N/A |
N/A |
No information
|
| Senior-Loken syndrome 3 |
N/A |
N/A |
No information
|
| Senior-Loken syndrome 1 |
N/A |
N/A |
No information
|
| Kenny-Caffey syndrome, Type 2 |
N/A |
N/A |
No information
|
| Kenny-Caffey syndrome, Type 1 |
N/A |
N/A |
No information
|
| Spontaneous pneumothorax, familial type |
N/A |
N/A |
No information
|
| Laryngomalacia, dominant congenital |
N/A |
N/A |
No information
|
| Spondylocostal dysostosis, autosomal recessive 3 |
N/A |
N/A |
No information
|
| Spondylocostal dysostosis, autosomal recessive 1 |
N/A |
N/A |
No information
|
| Spondylocostal dysostosis, autosomal recessive 2 |
N/A |
N/A |
No information
|
| Otosclerosis, familial |
N/A |
N/A |
No information
|
| Thrombocytopenia -- chromosome breakage |
N/A |
N/A |
No information
|
| Tuberous sclerosis, type 2 |
N/A |
N/A |
No information
|
| Tuberous sclerosis, type 1 |
N/A |
N/A |
No information
|
| Gingival fibromatosis, dominant |
N/A |
N/A |
No information
|
| Meckel syndrome type 2 |
N/A |
N/A |
No information
|
| Renpenning syndrome |
N/A |
N/A |
No information
|
| Renpenning syndrome 1 |
N/A |
N/A |
No information
|
| Meckel Syndrome |
N/A |
N/A |
No information
|
| Meckel syndrome type 3 |
N/A |
N/A |
No information
|
| Meckel syndrome, type 5 |
N/A |
N/A |
No information
|
| Oculodentoosseous dysplasia dominant |
N/A |
N/A |
No information
|
| Spondylohypoplasia, arthrogryposis and popliteal pterygium |
N/A |
N/A |
No information
|
| Familial nasal acilia |
N/A |
N/A |
No information
|
| Iridogoniodysgenesis type1 |
N/A |
N/A |
No information
|
| Microcephaly, autosomal dominant |
N/A |
N/A |
No information
|
| Thrombocytopenia X-linked |
N/A |
N/A |
No information
|
| Familial Cold Autoinflammatory Syndrome (FCAS) |
N/A |
N/A |
No information
|
| Spondylocostal dysostosis, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia with Kallmann syndrome |
N/A |
N/A |
No information
|
| Ankyloblepharon filiforme -- imperforate anus |
N/A |
N/A |
No information
|
| Spondylocostal dysplasia dominant |
N/A |
N/A |
No information
|
| Marfanoid -- mental retardation syndrome autosomal |
N/A |
N/A |
No information
|
| Defective expression of HLA class 2 |
N/A |
N/A |
No information
|
| Defective expression of HLA class 1 |
N/A |
N/A |
No information
|
| Pachyonychia congenita recessive |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive, 3 |
N/A |
N/A |
No information
|
| Multiple fibrofolliculoma familial |
N/A |
N/A |
No information
|
| Nesidioblastosis of pancreas |
N/A |
N/A |
No information
|
| Hypogonadism, primary -- partial alopecia |
N/A |
N/A |
No information
|
| Multifocal heterotopia |
N/A |
N/A |
No information
|
| Subcortical laminar heterotopia |
N/A |
N/A |
No information
|
| Marginal glioneuronal heterotopia |
N/A |
N/A |
No information
|
| Periventricular laminar heterotopia |
N/A |
N/A |
No information
|
| Heterotopia, periventricular, autosomal recessive |
N/A |
N/A |
No information
|
| Hereditary nodular heterotopia |
N/A |
N/A |
No information
|
| Subependymal nodular heterotopia |
N/A |
N/A |
No information
|
| Familial band heterotopia |
N/A |
N/A |
No information
|
| Chondrodysplasia punctata, Sheffield type |
N/A |
N/A |
No information
|
| Chondrodysplasia punctata, tibia-metacarpal type |
N/A |
N/A |
No information
|
| Chondrodysplasia Punctata, Rhizomelic type |
N/A |
N/A |
No information
|
| Chondrodysplasia punctata, humero-metacarpal type |
N/A |
N/A |
No information
|
| Rhizomelic chondrodysplasia punctata, type 1 |
N/A |
N/A |
No information
|
| Rhizomelic chondrodysplasia punctata, type 2 |
N/A |
N/A |
No information
|
| Rhizomelic chondrodysplasia punctata, type 3 |
N/A |
N/A |
No information
|
| Frontotemporal dementia, ubiquitin-positive |
N/A |
N/A |
No information
|
| Genu valgum, St Helena familial |
N/A |
N/A |
No information
|
| Atrial myxoma, familial |
N/A |
N/A |
No information
|
| Disorder of Cornification 12 (Neutral Lipid Storage Type) |
N/A |
N/A |
No information
|
| Disorder of Cornification 8, Curth-Macklin Type |
N/A |
N/A |
No information
|
| ZAP70 deficiency |
N/A |
N/A |
No information
|
| Platyspondylic lethal chondrodysplasia |
N/A |
N/A |
No information
|
| Hand-foot-uterus syndrome |
N/A |
N/A |
No information
|
| Metaphyseal chondrodysplasia, recessive type |
N/A |
N/A |
No information
|
| Unusual facies, digital anomalies, and supernumerary teeth |
N/A |
N/A |
No information
|
| Familial hematuria, autosomal dominant -- retinal arteriolar tortuosity -- contractures |
N/A |
N/A |
No information
|
| Encephalopathy, familial, with neuroserpin inclusion bodies |
N/A |
N/A |
No information
|
| Neuronopathy, distal hereditary motor, type IIB |
N/A |
N/A |
No information
|
| Gnathodiaphyseal dysplasia |
N/A |
N/A |
No information
|
| Craniofacioskeletal syndrome |
N/A |
N/A |
No information
|
| Digital arthropathy-brachydactyly, familial |
N/A |
N/A |
No information
|
| Potocki-Lupski syndrome |
N/A |
N/A |
No information
|
| Hyper-IgD syndrome |
N/A |
N/A |
No information
|
| Acrodysplasia scoliosis |
N/A |
N/A |
No information
|
| Acroosteolysis neurogenic |
N/A |
N/A |
No information
|
| Acromegaloid hypertrichosis syndrome |
N/A |
N/A |
No information
|
| Acromicric dysplasia |
N/A |
N/A |
No information
|
| Acropectorovertebral dysplasia |
N/A |
N/A |
No information
|
| Familial hypopituitarism |
N/A |
N/A |
No information
|
| Acromesomelic dysplasia, Maroteaux type |
N/A |
N/A |
No information
|
| Macrocephaly, benign familial |
N/A |
N/A |
No information
|
| Piebaldism |
N/A |
N/A |
No information
|
| Hyperferritinemia, hereditary with congenital cataracts |
N/A |
N/A |
No information
|
| Bone fragility, craniosynostosis, proptosis, hydrocephalus |
N/A |
N/A |
No information
|
| Neuroferritinopathy |
N/A |
N/A |
No information
|
| Neuroferritinopathy (adult-onset basal ganglia disease) |
N/A |
N/A |
No information
|
| Basal Ganglia Disease, Adult-Onset |
N/A |
N/A |
No information
|
| Periodic paralysis, potassium-sensitive, cardiodysrythmic type |
N/A |
N/A |
No information
|
| Opitz syndrome , X-linked |
N/A |
N/A |
No information
|
| Pierre Robin syndrome -- fetal chondrodysplasia |
N/A |
N/A |
No information
|
| Spondylo-humero-femoral dysplasia |
N/A |
N/A |
No information
|
| Aniridia ptosis mental retardation obesity familial type |
N/A |
N/A |
No information
|
| Sexual precocity, familial, gonadotropin-independent, male-limited |
N/A |
N/A |
No information
|
| X-linked mental retardation -- hypotonia |
N/A |
N/A |
No information
|
| HERNS syndrome |
N/A |
N/A |
No information
|
| Visceral neuropathy, familial, autosomal dominant |
N/A |
N/A |
No information
|
| Female pseudohermaphrodism |
N/A |
N/A |
No information
|
| Follicle-stimulating hormone deficiency, isolated |
N/A |
N/A |
No information
|
| Multiple pterygium syndrome, autosomal recessive |
N/A |
N/A |
No information
|
| Rhnull syndrome |
N/A |
N/A |
No information
|
| Craniodiaphyseal dysplasia, autosomal dominant |
N/A |
N/A |
No information
|
| Fochs-LADD |
N/A |
N/A |
No information
|
| $CRAPB$ |
N/A |
N/A |
No information
|
| Bestrophinopathy, atuosomal recessive |
N/A |
N/A |
No information
|
| Unusual facies and autosomal dominant hypohidrotic ectodermal dysplasia |
N/A |
N/A |
No information
|
| Hereditary keratoacanthoma |
N/A |
N/A |
No information
|
| Melanosis diffusa congenita |
N/A |
N/A |
No information
|
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
N/A |
N/A |
No information
|
| Corticosteroid-binding globulin deficiency |
N/A |
N/A |
No information
|
| Krieble Bixler syndrome |
N/A |
N/A |
No information
|
| Monogenic obesity |
N/A |
N/A |
No information
|
| Eccentrochondrodysplasia |
N/A |
N/A |
No information
|
| Mesomelic dysplasia, Camera type |
N/A |
N/A |
No information
|
| Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3 |
N/A |
N/A |
No information
|
| Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3 |
N/A |
N/A |
No information
|
| Mungan syndrome |
N/A |
N/A |
No information
|
| Weaver like syndrome |
N/A |
N/A |
No information
|
| Vestibulocochlear dysfunction progressive familial |
N/A |
N/A |
No information
|
| Obesity due to pro-opiomelanocortin Deficiency |
N/A |
N/A |
No information
|
| Spermatogenic failure, nonobstructive, Y-linked |
N/A |
N/A |
No information
|
| Hereditary vascular retinopathie -- Raynaud phenomenon -- migraine |
N/A |
N/A |
No information
|
| Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
N/A |
N/A |
No information
|
| Chondrodysplasia punctata, non rhizomelic type |
N/A |
N/A |
No information
|
| Rh deficiency syndrome |
N/A |
N/A |
No information
|
| Vestibulocochlear dysfunction progressive familial type |
N/A |
N/A |
No information
|
| Leigh syndrome, Saguenay-Lac-St. Jean type |
N/A |
N/A |
No information
|
| Ectodermal dysplasia, hypohidrotic, autosomal dominant |
N/A |
N/A |
No information
|
| X-linked lymphoproliferative syndrome |
N/A |
N/A |
No information
|
| Peeling skin syndrome, acral type |
N/A |
N/A |
No information
|
| Thyrotropin deficiency, isolated |
N/A |
N/A |
No information
|
| Anton-Vogt syndrome |
N/A |
N/A |
No information
|
| Florid cemento-osseous dysplasia |
N/A |
N/A |
No information
|
| Schindler disease |
N/A |
N/A |
No information
|
| Schindler disease, type 1 |
N/A |
N/A |
No information
|
| Schindler disease, type 3 |
N/A |
N/A |
No information
|
| Sturge-Weber Syndrome |
N/A |
N/A |
No information
|
| McCune-Albright Syndrome |
N/A |
N/A |
No information
|
| Familial Articular Chondrocalcinosis |
N/A |
N/A |
No information
|
| Infantile hypophosphatasia |
N/A |
N/A |
No information
|
| Favism |
N/A |
N/A |
No information
|
| Nondisjunction |
N/A |
N/A |
No information
|
| Gilbert's Syndrome |
N/A |
N/A |
No information
|
| Cadasil |
N/A |
N/A |
about 400 people have been diagnosed with CADASIL worldwide, Genetics Home Reference website
|
| Tangier disease |
N/A |
N/A |
about 50 cases of Tangier disease have been diagnosed worldwide, Genetics Home Reference website
|
| Neu-Laxova Syndrome |
N/A |
N/A |
No information
|
| Walker-Warburg Syndrome |
N/A |
N/A |
No information
|
| Renal dysplasia hepatic fibrosis dandy walker |
N/A |
N/A |
No information
|
| Retinitis punctata albescens |
N/A |
N/A |
No information
|
| Sorsby's fundus dystrophy |
N/A |
N/A |
No information
|
| Isthmus coarctation |
N/A |
N/A |
No information
|
| Hangover susceptibility |
N/A |
N/A |
No information
|
| Thombocytopenia X-linked |
N/A |
N/A |
No information
|
| Tetrahydrobiopterin deficiencies |
N/A |
N/A |
No information
|
| Lateral semicircular canal malformation, familial, with external and middle ear abnormalities |
N/A |
N/A |
No information
|
| Nail-Patella Syndrome |
N/A |
N/A |
No information
|
| Acrodysostosis |
N/A |
N/A |
No information
|
| Kuf Disease |
N/A |
N/A |
No information
|
| Fibrodysplasia Ossificans Progressiva |
N/A |
N/A |
No information
|
| Dubin-Johnson Syndrome |
N/A |
N/A |
No information
|
| Nance-Horan Syndrome |
N/A |
N/A |
No information
|
| Cronkhite-Canada Syndrome |
N/A |
N/A |
No information
|
| MASA Syndrome |
N/A |
N/A |
No information
|
| Bowen-Conradi Syndrome |
N/A |
N/A |
No information
|
| Alpha 1-Antitrypsin Deficiency |
N/A |
N/A |
1 per 5,000 - 7,000 people suffer from alpha-1 antitrypsin deficiency in North America, Genetics Home Reference website
|
| Dyggve-Melchior-Clausen Syndrome |
N/A |
N/A |
No information
|
| Blue Diaper Syndrome |
N/A |
N/A |
No information
|
| Byler Disease |
N/A |
N/A |
No information
|
| Marden-Walker Syndrome |
N/A |
N/A |
No information
|
| Rieger Syndrome |
N/A |
N/A |
No information
|
| Brugada Syndrome |
N/A |
N/A |
estimated 5 per 10,000 people suffer from Brugada syndrome worldwide, Genetic Home Reference website
|
| Sclerosteosis |
N/A |
N/A |
No information
|
| Weismann-Netter-Stuhl Syndrome |
N/A |
N/A |
No information
|
| Weaver Syndrome |
N/A |
N/A |
No information
|
| Yunis Varon syndrome |
N/A |
N/A |
No information
|
| XLMR-Hypotonic Facies Syndrome |
N/A |
N/A |
No information
|
| Wolf-Hirschhorn Syndrome |
N/A |
N/A |
No information
|
| Smith-Lemli-Opitz Syndrome |
N/A |
N/A |
estimated 1 per 20,000 - 40,000 newborns suffer from Smith-Lemli-Opitz syndrome, Genetics Home Reference website
|
| Simpson Dysmorphia Syndrome |
N/A |
N/A |
No information
|
| Ichthyosis follicularis-atrichia-photophobia syndrome |
N/A |
N/A |
No information
|
| Brailsford |
N/A |
N/A |
No information
|
| Brachymesophalangy 2 and 5 |
N/A |
N/A |
No information
|
| Familial interstitial fibrosis |
N/A |
N/A |
No information
|
| $3-M Syndrome$ |
N/A |
N/A |
No information
|
| Hay-Wells Syndrome |
N/A |
N/A |
No information
|
| Hay-Wells syndrome, recessive type |
N/A |
N/A |
No information
|
| McGrath Syndrome |
N/A |
N/A |
No information
|
| Bjornstad syndrome |
N/A |
N/A |
No information
|
| Aplasia Cutis Congenita |
N/A |
N/A |
No information
|
| LEOPARD Syndrome |
N/A |
N/A |
No information
|
| Cat Eye Syndrome |
N/A |
N/A |
No information
|
| Familial Expansile Osteolysis |
N/A |
N/A |
No information
|
| Pyknodysostosis |
N/A |
N/A |
No information
|
| Aase syndrome 2 |
N/A |
N/A |
No information
|
| Aase Smith syndrome |
N/A |
N/A |
No information
|
| Aase-Smith I syndrome |
N/A |
N/A |
No information
|
| Zimmerman-Laband syndrome |
N/A |
N/A |
No information
|
| Alagille Syndrome |
N/A |
N/A |
1 per 20,000 - 70,000 people suffer from Alagille syndrome, Genetics Home Reference website
|
| Ollier Disease |
N/A |
N/A |
No information
|
| Aarskog Syndrome |
N/A |
N/A |
No information
|
| Schinzel Giedion Syndrome |
N/A |
N/A |
No information
|
| Antley-Bixler Syndrome |
N/A |
N/A |
No information
|
| Cystinosis |
N/A |
N/A |
1 per 26,000 newborns suffer from cystinosis in the Brittany province in France, Genetics Home Reference website
|
| Treacher-Collins Syndrome |
N/A |
N/A |
estimated 1 per 50,000 people suffer from Treacher Collins syndrome, Genetics Home Reference website
|
| Nezelof Syndrome |
N/A |
N/A |
No information
|
| Bloom Syndrome |
N/A |
N/A |
1 per 48,000 people of Ashkenazi Jewish descent suffer from Bloom syndrome, Genetics Home Reference website
|
| Aase Syndrome |
N/A |
N/A |
No information
|
| Lowe Syndrome |
N/A |
N/A |
No information
|
| Cohen Syndrome |
N/A |
N/A |
No information
|
| Pallister-Killian Syndrome |
N/A |
N/A |
No information
|
| Dubowitz Syndrome |
N/A |
N/A |
No information
|
| C Syndrome |
N/A |
N/A |
No information
|
| CHARGE Syndrome |
N/A |
N/A |
No information
|
| Cerebrocostomandibular Syndrome |
N/A |
N/A |
No information
|
| Catel-Manzke Syndrome |
N/A |
N/A |
No information
|
| May-Hegglin Anomaly |
N/A |
N/A |
No information
|
| Bernard-Soulier Syndrome |
N/A |
N/A |
No information
|
| Peutz-Jeghers Syndrome |
N/A |
N/A |
estimated 1 per 250,000 - 300,000 people suffer from Peutz-Jeghers syndrome, Genetics Home Reference website
|
| Alstrom syndrome |
N/A |
N/A |
No information
|
| Floating Harbor Syndrome |
N/A |
N/A |
No information
|
| Gorlin-Chaudhry-Moss Syndrome |
N/A |
N/A |
No information
|
| Gastroschisis |
N/A |
N/A |
No information
|
| Schwartz-Jampel Syndrome |
N/A |
N/A |
No information
|
| KBG Syndrome |
N/A |
N/A |
No information
|
| Meleda Disease |
N/A |
N/A |
No information
|
| Johanson-Blizzard Syndrome |
N/A |
N/A |
No information
|
| Laband Syndrome |
N/A |
N/A |
No information
|
| Craniofrontonasal Syndrome |
N/A |
N/A |
No information
|
| Jarcho-Levin Syndrome |
N/A |
N/A |
No information
|
| Leri Pleonosteosis |
N/A |
N/A |
No information
|
| Maffucci Syndrome |
N/A |
N/A |
No information
|
| Schinzel Syndrome |
N/A |
N/A |
No information
|
| Roberts Pseudothalidomide Syndrome |
N/A |
N/A |
No information
|
| Coenzyme Q 10 (CoQ10), deficiency |
N/A |
N/A |
No information
|
| Chondrodystrophia calcificans congenita |
N/A |
N/A |
No information
|
| Conradi-Huenermann Syndrome |
N/A |
N/A |
No information
|
| Pallister Killian Mosaic Syndrome |
N/A |
N/A |
No information
|
| Pallister Mosaic Syndrome Tetrasomy 12p |
N/A |
N/A |
No information
|
| Gronblad-Strandberg-Touraine syndrome |
N/A |
N/A |
No information
|
| Osteodysplastic dwarfism, Corsello type |
N/A |
N/A |
No information
|
| McKusick type metaphyseal chondrodysplasia |
N/A |
N/A |
No information
|
| Chondrodysplasia, Grebe type |
N/A |
N/A |
No information
|
| Spondyloenchondrodysplasia |
N/A |
N/A |
No information
|
| Jansen type metaphyseal chondrodysplasia |
N/A |
N/A |
No information
|
| Metaphyseal chondrodysplasia Schmid type |
N/A |
N/A |
No information
|
| Revesz Debuse syndrome |
N/A |
N/A |
No information
|
| Aniridia -- ptosis -- mental retardation -- obesity, familial |
N/A |
N/A |
No information
|
| Osteodysplasia, familial, Anderson type |
N/A |
N/A |
No information
|
| Juvenile hyaline fibromatosis |
N/A |
N/A |
No information
|
| Revesz Syndrome |
N/A |
N/A |
No information
|
| Franceschetti-Klein syndrome |
N/A |
N/A |
No information
|
| Guizar-Vasquez-Luengas syndrome |
N/A |
N/A |
No information
|
| Hyalinosis, infantile systemic |
N/A |
N/A |
No information
|
| Jaffe-Lichtenstein syndrome |
N/A |
N/A |
No information
|
| Angelman-Like Syndrome, X-linked |
N/A |
N/A |
No information
|
| Aniridia ataxia renal agenesis psychomotor retardation |
N/A |
N/A |
No information
|
| Owren Parahemophilia |
N/A |
N/A |
No information
|
| Lichtenstein syndrome |
N/A |
N/A |
No information
|
| Comel-Netherton Syndrome |
N/A |
N/A |
No information
|
| BBB syndrome, X-linked |
N/A |
N/A |
No information
|
| Trichomegaly cataract hereditary spherocytosis |
N/A |
N/A |
No information
|
| Ptosis strabismus diastasis |
N/A |
N/A |
No information
|
| Slavotinek hurst syndrome |
N/A |
N/A |
No information
|
| Axenfeld-Rieger syndrome |
N/A |
N/A |
No information
|
| Lacrimoauriculodentodigital syndrome |
N/A |
N/A |
No information
|
| Wright dick syndrome |
N/A |
N/A |
No information
|
| Borjeson Syndrome |
N/A |
N/A |
No information
|
| Pantothenate kinase-associated neurodegeneration |
N/A |
N/A |
estimated 1-3 per 1 million people are affected by Hallervorden-Spatz disease worldwide, Genetics Home Reference website
|
| Hutchinson Gilford Syndrome |
N/A |
N/A |
No information
|
| Biber-Haab-Dimmer dystrophy |
N/A |
N/A |
No information
|
| Saguenay-Lac Saint Jean -- COX deficiency |
N/A |
N/A |
No information
|
| Rathburn disease |
N/A |
N/A |
No information
|
| APECED Syndrome |
N/A |
N/A |
No information
|
| LADD Syndrome |
N/A |
N/A |
No information
|
| Siemens syndrome |
N/A |
N/A |
No information
|
| Glaucoma ectopia microspherophakia stiff joints short stature |
N/A |
N/A |
No information
|
| Leucinosis |
N/A |
N/A |
No information
|
| Erythrokeratodermia Congenitalis Progressiva Symmetrica, Gottron |
N/A |
N/A |
No information
|
| Human HOXA1 Syndromes |
N/A |
N/A |
No information
|
| Segawa syndrome, autosomal dominant |
N/A |
N/A |
No information
|
| Segawa syndrome, autosomal recessive |
N/A |
N/A |
No information
|
| Meige's lymphedema |
N/A |
N/A |
No information
|
| CCFDN |
N/A |
N/A |
No information
|
| Cutaneomeningospinal angiomatosis |
N/A |
N/A |
No information
|
| DEND syndrome |
N/A |
N/A |
No information
|
| Dens in dente and palatal invaginations |
N/A |
N/A |
No information
|
| Dunnigan syndrome |
N/A |
N/A |
No information
|
| Eiken syndrome |
N/A |
N/A |
No information
|
| Fundus albipunctatus |
N/A |
N/A |
No information
|
| Gamborg nielsen syndrome |
N/A |
N/A |
No information
|
| Goldberg syndrome |
N/A |
N/A |
No information
|
| Haas-Robinson syndrome |
N/A |
N/A |
No information
|
| Levy-Yeboa Syndrome |
N/A |
N/A |
No information
|
| Lichstenstein syndrome |
N/A |
N/A |
No information
|
| LORD |
N/A |
N/A |
No information
|
| Majeed syndrome |
N/A |
N/A |
No information
|
| Mandibuloacral dysplasia |
N/A |
N/A |
No information
|
| MC4R deficiency |
N/A |
N/A |
No information
|
| Segawa Syndrome |
N/A |
N/A |
No information
|
| Brachyolmia, recessive Hobaek type |
N/A |
N/A |
No information
|
| Rietti-Greppi-Micheli syndrome |
N/A |
N/A |
No information
|
| Rowley syndrome |
N/A |
N/A |
No information
|
| Salvioli syndrome |
N/A |
N/A |
No information
|
| Satoyoshi syndrome 2 |
N/A |
N/A |
No information
|
| Schroder syndrome |
N/A |
N/A |
No information
|
| Focal ectodermal dysplasia |
N/A |
N/A |
No information
|
| Zanier-Roubicek syndrome |
N/A |
N/A |
No information
|
| Keratitis fugax hereditaria |
N/A |
N/A |
No information
|
| Abderhalden-Kaufmann-Lignac syndrome |
N/A |
N/A |
No information
|
| Acrocapitofemoral dysplasia |
N/A |
N/A |
No information
|
| Acro coxo mesomelic dysplasia |
N/A |
N/A |
No information
|
| Acrofacial dysostosis autosomal recessive |
N/A |
N/A |
No information
|
| Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis |
N/A |
N/A |
No information
|
| Stiff baby syndrome |
N/A |
N/A |
No information
|
| Spondyloepimetaphyseal dysplasia, genevieve type |
N/A |
N/A |
No information
|
| Brunzell syndrome |
N/A |
N/A |
No information
|
| PFIC |
N/A |
N/A |
No information
|
| Oguchi disease |
N/A |
N/A |
No information
|
| Summerskill-Walshe-Tygstrup syndrome |
N/A |
N/A |
No information
|
| Baker-Winegrad disease |
N/A |
N/A |
No information
|
| Bessel-Hagen disease |
N/A |
N/A |
No information
|
| BOR syndrome |
N/A |
N/A |
No information
|
| Bosley-Salih-Alorainy syndrome |
N/A |
N/A |
No information
|
| Harper dwarfism |
N/A |
N/A |
No information
|
| Havlikova syndrome |
N/A |
N/A |
No information
|
| Heller-Nelson syndrome |
N/A |
N/A |
No information
|
| Hunter-Fraser syndrome |
N/A |
N/A |
No information
|
| Ives-Houston syndrome |
N/A |
N/A |
No information
|
| Jorgenson syndrome |
N/A |
N/A |
No information
|
| Keutel syndrome 2 |
N/A |
N/A |
No information
|
| Latham-Munro syndrome |
N/A |
N/A |
No information
|
| May-White syndrome |
N/A |
N/A |
No information
|
| Miescher syndrome (2) |
N/A |
N/A |
No information
|
| Osuntokun syndrome |
N/A |
N/A |
No information
|
| Viscero-atrial heterotaxia |
N/A |
N/A |
No information
|
| Fish-eye disease |
N/A |
N/A |
No information
|
| Jaffer-Beighton syndrome |
N/A |
N/A |
No information
|
| Connexin 26 anomaly |
N/A |
N/A |
No information
|
| Familial streblodactyly |
N/A |
N/A |
No information
|
| Familial multiple trichodiscomas |
N/A |
N/A |
No information
|
| Hypogonadotropic hypogonadism without anosmia, X-linked |
N/A |
N/A |
No information
|
| Cleidorhizomelic syndrome |
N/A |
N/A |
No information
|
| Escobar syndrome, type B |
N/A |
N/A |
No information
|
| Renoanogenital syndrome |
N/A |
N/A |
No information
|
| Acrorenal syndrome recessive |
N/A |
N/A |
No information
|
| Dysostosis acral with facial and genital abnormalities |
N/A |
N/A |
No information
|
| Jankovic-Rivera syndrome |
N/A |
N/A |
No information
|
| Hodgkin disease, X-linked pseudoautosomal |
N/A |
N/A |
No information
|
| Hypoparathyroidism familial isolated |
N/A |
N/A |
No information
|
| Filaminopathy, autosomal dominant |
N/A |
N/A |
No information
|
| Coffin syndrome 1 |
N/A |
N/A |
No information
|
| Christian's syndrome 1 |
N/A |
N/A |
No information
|
| Familial dermographism |
N/A |
N/A |
No information
|
| Macleod-Fraser syndrome |
N/A |
N/A |
No information
|
| Cardiac valvular dysplasia, X-linked |
N/A |
N/A |
No information
|
| Familial cylindromatosis |
N/A |
N/A |
No information
|
| Erythema nodosum, familial |
N/A |
N/A |
No information
|
| Emanuel syndrome |
N/A |
N/A |
No information
|
| Conorenal Syndrome |
N/A |
N/A |
No information
|
| Alpha-mannosidosis type II |
N/A |
N/A |
No information
|
| Burn-McKeown syndrome |
N/A |
N/A |
No information
|
| Heterotaxy, visceral, X-linked |
N/A |
N/A |
No information
|
| Alpha-mannosidosis, adult-onset form |
N/A |
N/A |
No information
|
| Choreoacanthocytosis amyotrophic |
N/A |
N/A |
No information
|
| Ectodermal dysplasia, hypohidrotic, with immune deficiency |
N/A |
N/A |
No information
|
| Gonadal dysgenesis Turner type |
N/A |
N/A |
No information
|
| Chondrocalcinosis due to apatite crystal deposition |
N/A |
N/A |
No information
|
| Atkin-Flatiz syndrome |
N/A |
N/A |
No information
|
| Bernard syndrome |
N/A |
N/A |
No information
|
| Braun-Bayer syndrome |
N/A |
N/A |
No information
|
| Dana syndrome |
N/A |
N/A |
No information
|
| Denys-Corbeel syndrome |
N/A |
N/A |
No information
|
| Favre-Goldman syndrome |
N/A |
N/A |
No information
|
| Forsius-Eriksson syndrome |
N/A |
N/A |
No information
|
| Giacomini disease |
N/A |
N/A |
No information
|
| Myhre-Ruvalcaba-Kelley syndrome |
N/A |
N/A |
No information
|
| Progressive acromelanosis |
N/A |
N/A |
No information
|
| Omodysplasia -- dominant type |
N/A |
N/A |
No information
|
| Myoclonus hereditary -- progressive distal muscular atrophy |
N/A |
N/A |
No information
|
| Pterygium syndrome, X-linked |
N/A |
N/A |
No information
|
| Miles-Carpenter X-linked mental retardation syndrome |
N/A |
N/A |
No information
|
| Situs inversus, X-linked |
N/A |
N/A |
No information
|
| Powell-Buist-Stenzel syndrome |
N/A |
N/A |
No information
|
| Slavotinek-Pike-Mills-Hurst syndrome |
N/A |
N/A |
No information
|
| Siderius type X-linked mental retardation syndrome |
N/A |
N/A |
No information
|
| Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive |
N/A |
N/A |
No information
|
| Micro syndrome |
N/A |
N/A |
No information
|
| Say syndrome |
N/A |
N/A |
No information
|
| Reticuloendotheliosis |
N/A |
N/A |
No information
|
| Southwestern Athabaskan genetic diseases |
N/A |
N/A |
No information
|
| Reardon-Wilson-Cavanagh syndrome |
N/A |
N/A |
No information
|
| UPD2 |
N/A |
N/A |
No information
|
| Trichoscyphodysplasia |
N/A |
N/A |
No information
|
| Myoglobinuria, dominant form |
N/A |
N/A |
No information
|
| UPD5 |
N/A |
N/A |
No information
|
| Plasmalogens synthesis deficiency isolated |
N/A |
N/A |
No information
|
| Allanson-Pantzar-McLeod syndrome |
N/A |
N/A |
No information
|
| Ansell-Bywaters-Elderking syndrome |
N/A |
N/A |
No information
|
| Myasthenic syndrome, congenital, slow-channel |
N/A |
N/A |
No information
|
| Stocco dos Santos syndrome |
N/A |
N/A |
No information
|
| McPherson-Robertson-Cammarano syndrome |
N/A |
N/A |
No information
|
| Navajo neurohepatopathy |
N/A |
N/A |
No information
|
| MN1 |
N/A |
N/A |
No information
|
| Developmental dysphasia, familial |
N/A |
N/A |
No information
|
| Jacobsen syndrome |
N/A |
N/A |
No information
|
| Loose anagene syndrome |
N/A |
N/A |
No information
|
| Leiomyomatosis familial |
N/A |
N/A |
No information
|
| Frank-Ter Haar syndrome |
N/A |
N/A |
No information
|
| Marden-Walker-like syndrome |
N/A |
N/A |
No information
|
| Striatonigral degeneration infantile |
N/A |
N/A |
No information
|
| Lambdoid synostosis familial |
N/A |
N/A |
No information
|
| Potocki-Shaffer syndrome |
N/A |
N/A |
No information
|
| Polyostotic osteolytic dysplasia, hereditary expansile |
N/A |
N/A |
No information
|
| Retinohepatoendocrinologic syndrome |
N/A |
N/A |
No information
|
| Pulmonary hypoplasia familial primary |
N/A |
N/A |
No information
|
| Mullerian derivatives, persistent |
N/A |
N/A |
No information
|
| Spondyloepimetaphyseal dysplasia, X-linked |
N/A |
N/A |
No information
|
| McLain-Dekaban syndrome |
N/A |
N/A |
No information
|
| Lobstein disease |
N/A |
N/A |
No information
|
| Nevi flammei, familial multiple |
N/A |
N/A |
No information
|
| Cyprus facial neuromusculoskeletal syndrome |
N/A |
N/A |
No information
|
| Thrombomodulin anomalies, familial |
N/A |
N/A |
No information
|
| Cushing syndrome, familial |
N/A |
N/A |
No information
|
| Tetraploidy |
N/A |
N/A |
No information
|
| Joint laxity, familial |
N/A |
N/A |
No information
|
| Thakker-Donnai syndrome |
N/A |
N/A |
No information
|
| Pemphigus vulgaris, familial |
N/A |
N/A |
No information
|
| Familial opposable triphalangeal thumbs duplication |
N/A |
N/A |
No information
|
| Aplasia cutis congenita of limbs recessive |
N/A |
N/A |
No information
|
| Familial venous malformations |
N/A |
N/A |
No information
|
| Spondyloepimetaphyseal dysplasia with hypotrichosis |
N/A |
N/A |
No information
|
| Faciodigitogenital syndrome, recessive form |
N/A |
N/A |
No information
|
| Schimke, X-linked, mental retardation syndrome |
N/A |
N/A |
No information
|
| Macules, hereditary, congenital hypopigmented and hyperpigmented |
N/A |
N/A |
No information
|
| MHC class 1 or class 2 deficiency |
N/A |
N/A |
No information
|
| UPD10 |
N/A |
N/A |
No information
|
| Dent's disease |
N/A |
N/A |
No information
|
| Char syndrome |
N/A |
N/A |
No information
|
| MASS syndrome |
N/A |
N/A |
No information
|
| Ossicular Malformations, familial |
N/A |
N/A |
No information
|
| Manz syndrome |
N/A |
N/A |
No information
|
| Renier-Gabreels-Jasper syndrome |
N/A |
N/A |
No information
|
| Sallis-Beighton syndrome |
N/A |
N/A |
No information
|
| Seow-Najjar syndrome |
N/A |
N/A |
No information
|
| Hunter-McAlpine syndrome |
N/A |
N/A |
No information
|
| Schroer-Hammer-Mauldin syndrome |
N/A |
N/A |
No information
|
| Doyne syndrome |
N/A |
N/A |
No information
|
| Telfer-Sugar-Jaeger syndrome |
N/A |
N/A |
No information
|
| Simell-Takki syndrome |
N/A |
N/A |
No information
|
| Flynn-Aird syndrome |
N/A |
N/A |
No information
|
| Mount Reback syndrome |
N/A |
N/A |
No information
|
| Ziehen-Oppenheim syndrome |
N/A |
N/A |
No information
|
| Puretic syndrome |
N/A |
N/A |
No information
|
| Stiff skin syndrome |
N/A |
N/A |
No information
|
| Osteopoikilosis |
N/A |
N/A |
No information
|
| Lanzietri syndrome |
N/A |
N/A |
No information
|
| Rosenberg-Lohr syndrome |
N/A |
N/A |
No information
|
| Storm syndrome |
N/A |
N/A |
No information
|
| Arakawa syndrome 1 |
N/A |
N/A |
No information
|
| Hypertrichosis lanuginosa congenita |
N/A |
N/A |
No information
|
| Holzgreve-Wagner-Rehder syndrome |
N/A |
N/A |
No information
|
| Multiple synostoses syndrome 1 |
N/A |
N/A |
No information
|
| Brachyrachia |
N/A |
N/A |
No information
|
| Pitt-Rogers-Danks syndrome |
N/A |
N/A |
No information
|
| Acromegaloid facial appearance syndrome |
N/A |
N/A |
No information
|
| Brain -- bone -- fat |
N/A |
N/A |
No information
|
| Pallister-Ulnar mammary syndrome |
N/A |
N/A |
No information
|
| Adams Nance syndrome |
N/A |
N/A |
No information
|
| Acromesomelic dysplasia Brahimi Bacha type |
N/A |
N/A |
No information
|
| Ambras syndrome |
N/A |
N/A |
No information
|
| Acromelic frontonasal dysplasia |
N/A |
N/A |
No information
|
| Hypodontia, X-linked |
N/A |
N/A |
No information
|
| Alstrom disease |
N/A |
N/A |
about 425 cases of Alstrom disease reported worldwide, Genetics Home Reference website
|
| Buttiens-Fryns syndrome |
N/A |
N/A |
No information
|
| Desmoid disease, hereditary |
N/A |
N/A |
No information
|
| Chondrocalcinosis familial articular |
N/A |
N/A |
No information
|
| De Grouchy Syndrome |
N/A |
N/A |
No information
|
| Blaichman syndrome |
N/A |
N/A |
No information
|
| Carnevale-Krajewska-Fischetto syndrome |
N/A |
N/A |
No information
|
| Oculodentoosseous dysplasia recessive |
N/A |
N/A |
No information
|
| Eunuchoidism familial |
N/A |
N/A |
No information
|
| Jeune-Tommasi syndrome |
N/A |
N/A |
No information
|
| Gillum-Anderson syndrome |
N/A |
N/A |
No information
|
| Nasodigitoacoustic syndrome |
N/A |
N/A |
No information
|
| Bare lymphocyte syndrome |
N/A |
N/A |
No information
|
| Thieffry and Sorrell Dejerine syndrome |
N/A |
N/A |
No information
|
| Synovitis granulomatous with uveitis and cranial neuropathies, familial |
N/A |
N/A |
No information
|
| Lujan-Fryns syndrome |
N/A |
N/A |
No information
|
| Gomez and Lopez-Hernandez syndrome |
N/A |
N/A |
No information
|
| Arakawa's syndrome 2 |
N/A |
N/A |
No information
|
| Ichthyosis-cheek-eyebrow syndrome |
N/A |
N/A |
No information
|
| Ramos-ArroyoClark syndrome |
N/A |
N/A |
No information
|
| Lafora disease |
N/A |
N/A |
No information
|
| Groll-Hirschowitz syndrome |
N/A |
N/A |
No information
|
| Pyle disease |
N/A |
N/A |
No information
|
| Cortical hyperostosis-syndactyly |
N/A |
N/A |
No information
|
| Albers-Schonberg disease -- Adult benign dominant form |
N/A |
N/A |
No information
|
| Paine syndrome |
N/A |
N/A |
No information
|
| Tieche-Jadassohn nevus |
N/A |
N/A |
No information
|
| N syndrome |
N/A |
N/A |
No information
|
| Small syndrome |
N/A |
N/A |
No information
|
| Erythrokeratodermia ataxia |
N/A |
N/A |
No information
|
| Di Mauro-Hartlage syndrome |
N/A |
N/A |
No information
|
| Karsch-Neugenbauer syndrome |
N/A |
N/A |
No information
|
| Oliver-McFarlane syndrome |
N/A |
N/A |
No information
|
| Grant syndrome |
N/A |
N/A |
No information
|
| Omenn syndrome |
N/A |
N/A |
No information
|
| Kostmann syndrome |
N/A |
N/A |
No information
|
| Severe achondroplasia with developmental delay and acanthosis nigricans |
N/A |
N/A |
only a few cases of SADDAN have been reported worldwide, Genetics Home Reference website
|
| Fairbank disease |
N/A |
N/A |
No information
|
| Becker disease |
N/A |
N/A |
No information
|
| Keratoacanthoma, familial |
N/A |
N/A |
No information
|
| Erythrokeratodermia symmetrica progressiva |
N/A |
N/A |
No information
|
| Chondrocalcinosis |
N/A |
N/A |
No information
|
| Ectodermal dysplasia |
N/A |
N/A |
No information
|
| Naegeli syndrome |
N/A |
N/A |
No information
|
| Marie type ataxia |
N/A |
N/A |
No information
|
| Leigh syndrome, French Canadian type |
N/A |
N/A |
No information
|
| Ectodermal dysplasia anhidrotic |
N/A |
N/A |
No information
|
| Hermaphroditism |
N/A |
N/A |
No information
|
| Sneddon Syndrome |
N/A |
N/A |
No information
|
| Birt-Hogg-Dube syndrome |
N/A |
N/A |
over 60 cases of Birt-Hogg-Dube syndrome have been reported, Genetics Home Reference website
|
| Juberg-Marsidi syndrome |
N/A |
N/A |
No information
|
| W syndrome |
N/A |
N/A |
No information
|
| Peeling skin syndrome |
N/A |
N/A |
No information
|
| Sabouraud syndrome |
N/A |
N/A |
No information
|
| Cowden's syndrome |
N/A |
N/A |
estimated 1 per 200,000 people are affected by Cowden's syndrome, Genetic Home Reference website
|
| Pelizaeus-Merzbacher disease, recessive, acute infantile |
N/A |
N/A |
No information
|
| Juberg-Hayward syndrome |
N/A |
N/A |
No information
|
| Hypohidrotic Ectodermal Dysplasia |
N/A |
N/A |
estimated more than 1 per 17,000 people are affected by hypohidrotic ectodermal dysplasia worldwide, Genetics Home Reference website
|
| Andersen-Tawil syndrome |
N/A |
N/A |
100 people have been reported with Andersen-Tawil syndrome worldwide, Genetics Home Reference
|
| Maxillonasal dysplasia, Binder type |
N/A |
N/A |
No information
|
| Maxillofacial dysostosis |
N/A |
N/A |
No information
|
| Levine-Critchley syndrome |
N/A |
N/A |
No information
|
| Scott syndrome |
N/A |
N/A |
No information
|
| Roberts syndrome |
N/A |
N/A |
No information
|
| Muckle-Wells syndrome |
N/A |
N/A |
No information
|
| Dextrocardia-bronchiectasis-sinusitis |
N/A |
N/A |
No information
|
| Lowe oculocerebrorenal syndrome |
N/A |
N/A |
No information
|
| Potassium aggravated myotonia |
N/A |
N/A |
only a few cases of potassium aggravated myotonia have been reported worldwide, Genetics Home Reference website
|
| Strudwick syndrome |
N/A |
N/A |
only a few cases of the condition have been reported, Genetics Home Reference website
|
| Broad beta disease |
N/A |
N/A |
No information
|
| Summitt syndrome |
N/A |
N/A |
No information
|
| Gastrocutaneous syndrome |
N/A |
N/A |
No information
|
| Gaucher-like disease |
N/A |
N/A |
only a few cases of Gaucher-like disease have been reported worldwide, Genetics Home Reference website
|
| Verloes-David Syndrome |
N/A |
N/A |
No information
|
| Witkop syndrome |
N/A |
N/A |
No information
|
| Warburton Anyane Yeboa syndrome |
N/A |
N/A |
No information
|
| Wilson-Turner X-linked mental retardation |
N/A |
N/A |
No information
|
| Wolman disease |
N/A |
N/A |
No information
|
| X fragile site folic acid type |
N/A |
N/A |
No information
|
| Visceral steatosis |
N/A |
N/A |
No information
|
| Wohlwill-Andrade syndrome |
N/A |
N/A |
No information
|
| Webster Deming syndrome |
N/A |
N/A |
No information
|
| WT limb blood syndrome |
N/A |
N/A |
No information
|
| White sponge naevus of cannon |
N/A |
N/A |
No information
|
| Worth syndrome |
N/A |
N/A |
No information
|
| Wolf-Hirschorn syndrome |
N/A |
N/A |
No information
|
| Zunich neuroectodermal syndrome |
N/A |
N/A |
No information
|
| Wolcott-Rallison syndrome |
N/A |
N/A |
No information
|
| Collagenoma, cutaneous familial |
N/A |
N/A |
No information
|
| Achard syndrome |
N/A |
N/A |
No information
|
| Shaver's disease |
N/A |
N/A |
No information
|
| Sabin-Feldman syndrome |
N/A |
N/A |
No information
|
| Pulmonary arteriovenous fistula |
N/A |
N/A |
No information
|
| Beemer-Langer syndrome |
N/A |
N/A |
No information
|
| Norum disease |
N/A |
N/A |
No information
|
| Oculomelic amyoplasia |
N/A |
N/A |
No information
|
| Bencze syndrome |
N/A |
N/A |
No information
|
| Maumenee syndrome |
N/A |
N/A |
No information
|
| Sillence syndrome |
N/A |
N/A |
No information
|
| Albers-Schonberg disease -- malignant recessive form |
N/A |
N/A |
No information
|
| Knobloch syndrome |
N/A |
N/A |
No information
|
| Rapadilino syndrome |
N/A |
N/A |
No information
|
| Metachondromatosis |
N/A |
N/A |
No information
|
| Rabson-Mendenhall syndrome |
N/A |
N/A |
No information
|
| Pseudoinflammatory fundus dystrophy |
N/A |
N/A |
No information
|
| Fleisher syndrome |
N/A |
N/A |
No information
|
| Pashayan syndrome |
N/A |
N/A |
No information
|
| Jensen syndrome |
N/A |
N/A |
No information
|
| Fazio-Londe syndrome |
N/A |
N/A |
No information
|
| Sabinas brittle hair syndrome |
N/A |
N/A |
No information
|
| Lewis (F.) syndrome |
N/A |
N/A |
No information
|
| Leschke-Ullmann syndrome |
N/A |
N/A |
No information
|
| Keutel syndrome |
N/A |
N/A |
No information
|
| Sugarman II syndrome |
N/A |
N/A |
No information
|
| Pillay syndrome |
N/A |
N/A |
No information
|
| Male pseudohermaphroditism, incomplete hereditary (type 1) |
N/A |
N/A |
No information
|
| Spranger syndrome |
N/A |
N/A |
No information
|
| Nievergelt syndrome |
N/A |
N/A |
No information
|
| Hip dysplasia, Beukes type |
N/A |
N/A |
No information
|
| Kelley-Seegmiller syndrome |
N/A |
N/A |
No information
|
| Pseudodiastrophic dysplasia |
N/A |
N/A |
No information
|
| Oliver syndrome |
N/A |
N/A |
No information
|
| Sponastrime dysplasia |
N/A |
N/A |
No information
|
| Martsolf syndrome |
N/A |
N/A |
No information
|
| Senter syndrome |
N/A |
N/A |
No information
|
| Costello syndrome |
N/A |
N/A |
only about 250 cases of Costello syndrome has been reported worldwide, Genetics Home Reference website
|
| Krause-Kivlin syndrome |
N/A |
N/A |
No information
|
| Clouston syndrome |
N/A |
N/A |
No information
|
| Amyoplasia congenital disruptive sequence |
N/A |
N/A |
No information
|
| Craniometaphyseal dysplasia dominant type |
N/A |
N/A |
No information
|
| Hereditary hemorrhagic telangiectasia |
N/A |
N/A |
estimated 1 per 5,000 - 10,000 people suffer from hereditary hemorrhagic telangiectasia worldwide, Genetics Home Reference website
|
| Distal arthrogryposis syndrome |
N/A |
N/A |
No information
|
| Femoral facial syndrome |
N/A |
N/A |
No information
|
| Craniometaphyseal dysplasia, autosomal recessive type |
N/A |
N/A |
No information
|
| EEC syndrome |
N/A |
N/A |
No information
|
| Fibrochondrogenesis |
N/A |
N/A |
No information
|
| Grebe Syndrome |
N/A |
N/A |
No information
|
| Beals syndrome |
N/A |
N/A |
No information
|
| Hecht syndrome |
N/A |
N/A |
No information
|
| Geleophysic dwarfism |
N/A |
N/A |
No information
|
| Blepharophimosis, ptosis, epicanthus inversus |
N/A |
N/A |
No information
|
| Kniest dysplasia |
N/A |
N/A |
No information
|
| Jeune syndrome |
N/A |
N/A |
No information
|
| Nevus sebaceous of Jadassohn |
N/A |
N/A |
No information
|
| TAR syndrome |
N/A |
N/A |
No information
|
| Melnick-Fraser syndrome |
N/A |
N/A |
No information
|
| Rapp-Hodgkin syndrome |
N/A |
N/A |
No information
|
| Abdominal chemodectomas with cutaneous angiolipomas |
N/A |
N/A |
No information
|
| Oculodentodigital syndrome |
N/A |
N/A |
No information
|
| CHILD syndrome ichthyosis |
N/A |
N/A |
No information
|
| Mannosidosis, alpha B lysosomal |
N/A |
N/A |
No information
|
| Neurocutaneous melanosis |
N/A |
N/A |
No information
|
| Hydrolethalus syndrome |
N/A |
N/A |
No information
|
| Acrofacial dysostosis atypical postaxial |
N/A |
N/A |
No information
|
| Urogenital adysplasia |
N/A |
N/A |
No information
|
| Vasquez Hurst Sotos syndrome |
N/A |
N/A |
No information
|
| Urogenital adysplasia, hereditary |
N/A |
N/A |
No information
|
| Ventricular familial preexcitation syndrome |
N/A |
N/A |
No information
|
| Urofacial syndrome |
N/A |
N/A |
No information
|
| Ulerythema ophryogenesis |
N/A |
N/A |
No information
|
| Kanzaki disease |
N/A |
N/A |
No information
|
| Gardner-Diamond syndrome |
N/A |
N/A |
No information
|
| Book syndrome |
N/A |
N/A |
No information
|
| Familial chronic infantile diffuse sclerosis |
N/A |
N/A |
No information
|
| Behr syndrome |
N/A |
N/A |
No information
|
| PIBIDS syndrome |
N/A |
N/A |
No information
|
| Sakati syndrome |
N/A |
N/A |
No information
|
| Gitelman syndrome |
N/A |
N/A |
No information
|
| Muenke Syndrome |
N/A |
N/A |
estimated 1 per 30,000 newborns suffer from Muenke syndrome, Genetics Home Reference website
|
| Li-Fraumeni syndrome |
N/A |
N/A |
No information
|
| Haim-Munk syndrome |
N/A |
N/A |
No information
|
| Lubs syndrome |
N/A |
N/A |
No information
|
| Wolman syndrome |
N/A |
N/A |
No information
|
| Oculo-dento-digital dysplasia dominant |
N/A |
N/A |
No information
|
| Maternally Inherited Leigh Syndrome |
N/A |
N/A |
No information
|
| Romano-Ward syndrome |
N/A |
N/A |
estimated 1 per 7,000 people suffer from Romano-Ward syndrome worldwide, Genetics Home Reference website
|
