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Diseases » Congenital conditions » Incidence
 

Incidence Statistics for Types of Congenital conditions

The information below shows a list of types of Congenital conditions, with information as to the annual incidence of each of these types of Congenital conditions. Estimates of the people affected each year are calculated based on the available statistics.

Incidence Statistics for Types of Congenital conditions

Disease

Incidence Estimate

US people estimate

Statistic Used for Calculation

Congenital conditions (overall) N/A N/A 3-4% of babies (NWHIC)
Congenital heart conditions approx 1 in 8,159 or 0.01% or 33,333 people in USA 33,333 about 1 in 120 babies
Spina bifida approx 1 in 1,133,333 or 0.00% or 240 people in USA 240 6 per 100,000 births
Zellweger Syndrome N/A N/A No information
Congenital syphilis approx 1 in 489,208 or 0.00% or 556 people in USA 556 556 annual cases notified in USA 1999 (MMWR 1999)
Congenital SMA with arthrogryposis N/A N/A No information
Rubella congenital syndrome approx 1 in 30,222,221 or 0.00% or 9 people in USA 9 9 annual cases notified in USA 1999 (MMWR 1999)
congenital hypothyroidism approx 1 in 272,000 or 0.00% or 1,000 people in USA 1,000 about 1 in 4000 babies
Congenital Muscular Dystrophy N/A N/A No information
congenital agammaglobulinemia N/A N/A No information
Agenesis of the corpus callosum N/A N/A No information
Aicardi syndrome N/A N/A No information
Anencephaly approx 1 in 68,000 or 0.00% or 4,000 people in USA 4,000 less than 4,000 cases (the rate for spina bifida and anencephaly, NWHIC)
Arteriovenous Malformation N/A N/A No information
congenital abnormality N/A N/A No information
Craniosynostosis N/A N/A No information
Dandy-Walker Syndrome N/A N/A No information
Empty Sella Syndrome N/A N/A No information
Congenital malaria N/A N/A No information
congenital myasthenia N/A N/A No information
Hydranencephaly N/A N/A No information
Congenital Hydrocephalus N/A N/A No information
congenital hip dislocation approx 1 in 34,000 or 0.00% or 8,000 people in USA 8,000 about 2 per 1000 births; up to 4 per 1000
Klippel Feil Syndrome N/A N/A No information
Mobius syndrome N/A N/A No information
Neuronal Migration Disorders N/A N/A No information
Holoprosencephaly approx 1 in 285,714 or 0.00% or 951 people in USA 951 2.38 per 10,000 births in the UK 2002 for arhinencephaly/holprosencephaly (University of Ulster, 2003)
Cornea Plana 2 N/A N/A No information
Cornea plana, congenital N/A N/A No information
Congenital glaucoma N/A N/A No information
Night blindness, congenital stationary, type 2A N/A N/A No information
Night blindness, congenital stationary, type 1B N/A N/A No information
Congenital deafness N/A N/A No information
Amaurosis congenita of Leber, type 9 N/A N/A No information
Amaurosis congenita of Leber, type 2 N/A N/A No information
Amaurosis congenita of Leber, type 4 N/A N/A No information
Amaurosis congenita of Leber, type 6 N/A N/A No information
Amaurosis congenita of Leber, type 7 N/A N/A No information
Amaurosis congenita of Leber, type 8 N/A N/A No information
Heterozygous Familial Hypercholesterolemia N/A N/A No information
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
Hereditary Hemochromatosis N/A N/A No information
Mental retardation -- short stature -- heart and skeletal anomalies 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 4, Sensorineural Congenital N/A N/A No information
Deafness, X-Linked 2, Sensorineural Congenital 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
Orofacial Cleft 12 N/A N/A No information
Orofacial Cleft 11 N/A N/A No information
Orofacial Cleft 10 N/A N/A No information
Orofacial Cleft 9 N/A N/A No information
Orofacial Cleft 8 N/A N/A No information
Orofacial Cleft 7 N/A N/A No information
Orofacial Cleft 6, Suseptibility to, N/A N/A No information
Orofacial Cleft 5 N/A N/A No information
Orofacial Cleft 4 N/A N/A No information
Orofacial Cleft 3 N/A N/A No information
Orofacial Cleft 2 N/A N/A No information
Orofacial Cleft 1 N/A N/A No information
Orofacial Cleft 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
Congenital Analgesia N/A N/A No information
Congenital Pain Insensitivity N/A N/A No information
Congenital Insensitivity to Pain 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
Asymbolia for pain 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
Triphalangeal thumb N/A N/A No information
Supernumeracy Carpal Bones N/A N/A No information
Brachymetatarsalia N/A N/A No information
Brachymetatarsalism N/A N/A No information
Brachymetacarpalism N/A N/A No information
Brachymetacarpalia N/A N/A No information
Ulnar Ray Deficiency N/A N/A No information
Radial Ray Deficiency N/A N/A No information
Terminal Transverse Defect N/A N/A No information
Angel-Shaped Phalanges N/A N/A No information
Fromont Anomaly N/A N/A No information
Polydactyly, Preaxial 1 N/A N/A No information
Polydactyly, Preaxial 2 N/A N/A No information
Polydactyly, Preaxial 3 N/A N/A No information
Congenital tritanopia 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
Hypercholesterolemia, autosomal recessive N/A N/A No information
Homozygous Familial Hypercholesterolemia 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
Undescended Testicle approx 1 in 66 or 1.50% or 4.1 million people in USA 4,080,000 3% of male babies; about 30% of premature male babies.
Cryptorchidism N/A N/A No information
Congenital heart septum defect N/A N/A No information
Symmastia N/A N/A No information
Mental retardation, keratoconus, febrile seizures, and sinoatrial block N/A N/A No information
Congenital adrenal hyperplasia N/A N/A No information
Batten Disease 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
Meckel's diverticulum N/A N/A No information
Diverticulosis of the ileum 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
Mucopolysaccharidosis, type 9 N/A N/A No information
Propionic Acidemia N/A N/A No information
Alkaptonuria N/A N/A No information
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 No information
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 No information
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 No information
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 No information
HMG-CoA lyase deficiency N/A N/A No information
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
Factor VII deficiency N/A N/A No information
Dicarboxylicaminoaciduria N/A N/A No information
Anophthalmos N/A N/A No information
Anorchidia 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
Microtia type I N/A N/A No information
Microtia type II N/A N/A No information
Microtia type III N/A N/A No information
Microtia type IV N/A N/A No information
Microdontia -- type I microtia -- deafness N/A N/A No information
Microgastria short stature diabetes N/A N/A No information
Microlissencephaly N/A N/A No information
Microlissencephaly -- micromelia N/A N/A No information
Microphthalmia -- ankyloblepharon -- mental retardation N/A N/A No information
Microphthalmia -- brain atrophy 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
Thallessemia N/A N/A No information
Diseases related to congenital cataract 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
Cholestasis -- lymphoedema, syndrome 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
Aberrant subclavian artery abnormality N/A N/A No information
Absence of gluteal muscle N/A N/A No information
Absence of tibia N/A N/A No information
Absence of tibia with polydactyly N/A N/A No information
Absent breasts and nipples N/A N/A No information
Absence of pulmonary artery N/A N/A No information
Absence of septum pellucidum 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-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 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 No information
Ehlers-Danlos syndrome, tenascin-X deficiency N/A N/A No information
Ehlers-Danlos syndrome, cardiac valvular form 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
Complex 5 mitochondrial respiratory chain deficiency 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
Polydactyly preaxial N/A N/A No information
Syndactyly type 1 N/A N/A No information
Syndactyly type 1 -- subtype 1 N/A N/A No information
Syndactyly type 1 -- subtype 2 N/A N/A No information
Syndactyly type 1 -- subtype 3 N/A N/A No information
Syndactyly type 1 -- subtype 4 N/A N/A No information
Syndactyly N/A N/A No information
Syndactyly, type 2 N/A N/A No information
Syndactyly, type 3 N/A N/A No information
Syndactyly type 5 N/A N/A No information
Chiari Malformation N/A N/A No information
Chiari-1 Malformation N/A N/A No information
Arnold-Chiari Malformation (Type 1) N/A N/A No information
Arnold-Chiari Syndrome N/A N/A No information
Arnold-Chiari malformation type 2 N/A N/A No information
Arnold-Chiari malformation type 3 N/A N/A No information
Arnold-Chiari malformation type 4 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
Mental retardation, Buenos Aires type N/A N/A No information
Maple syrup urine disease, type 1B 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 approx 1 in 10,000 or 0.01% or 27,200 people in USA 27,199 about 1 in 10,0001.
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 No information
Osteogenesis imperfecta type II N/A N/A No information
Osteogenesis imperfecta type IV N/A N/A No information
Osteogenesis imperfecta, type 7 N/A N/A No information
Cephalic disorders N/A N/A No information
Neural tube defect approx 1 in 58,772 or 0.00% or 4,627 people in USA 4,627 11.57 per 10,000 births with neural tube defects in the UK 2002 (University of Ulster, 2003)
Glucose-6-phosphate deficiency N/A N/A No information
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
Mucolipidosis IV N/A N/A No information
Mucolipidosis type 4 N/A N/A No information
Mucolipidosis type 3 A N/A N/A No information
Mucolipidosis III N/A N/A No information
Mucolipidoses N/A N/A No information
Mucolipidosis type 1 N/A N/A No information
Congenital vaccinia 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 No information
Gaucher disease type 2 N/A N/A No information
Gaucher disease type 3 N/A N/A No information
Polydactyly 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
$46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure$ 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
Congenital short femur 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 deformity conductive deafness absent vagina N/A N/A No information
Congenital malformations N/A N/A No information
Cleft palate approx 1 in 47,600 or 0.00% or 5,714 people in USA 5,714 about 1 in 700 births
Congenital heart defects approx 1 in 8,159 or 0.01% or 33,333 people in USA 33,333 about 1 in 120 babies
Christmas disease N/A N/A No information
Von Willebrand disease N/A N/A No information
Hemophilia A N/A N/A No information
Hemophilia B N/A N/A No information
The Hemophilias N/A N/A No information
Split hand/split foot malformation, autosomal recessive N/A N/A No information
Nail dysplasia, isolated congenital N/A N/A No information
Ichthyosis microphthalmos N/A N/A No information
Pyruvate kinase deficiency, muscle type 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
Port-wine stain N/A N/A No information
Hypospadias N/A N/A No information
Epispadias N/A N/A No information
Extra Nipples N/A N/A No information
Hypertelorism with esophageal abnormality and hypospadias N/A N/A No information
Spina bifida -- hypospadias N/A N/A No information
Myopathy -- growth and mental retardation -- hypospadias N/A N/A No information
Preaxial deficiency, postaxial polydactyly and hypospadias N/A N/A No information
Tracheoesophageal fistula -- hypospadias N/A N/A No information
Hypospadias familial N/A N/A No information
Preaxial deficiency postaxial polydactyly hypospadias N/A N/A No information
Hypertelorism -- esophageal abnormalities -- hypospadias N/A N/A No information
Hypospadias -- hypertelorism N/A N/A No information
Cataract -- intellectual deficit -- anal atresia -- urinary defects N/A N/A No information
Myopathy -- growth delay -- mental retardation -- hypospadias N/A N/A No information
Adducted thumbs -- arthrogryposis, Christian type N/A N/A No information
Facial clefting corpus callosum agenesis N/A N/A No information
Craniosynostosis -- brachysyndactyly of hands and absence of toes N/A N/A No information
Short stature valvular heart disease characteristic facies N/A N/A No information
X-linked alpha thalassemia mental retardation syndrome (ATR-X) N/A N/A No information
Ulnar hypoplasia with mental retardation N/A N/A No information
Aniridia cerebellar ataxia mental deficiency N/A N/A No information
White matter hypoplasia, corpus callosum agenesia, and mental retardation N/A N/A No information
X-linked mental retardation craniofacial abnormal microcepahly club N/A N/A No information
Vitiligo mental retardation facial dysmorphism uremia N/A N/A No information
Blepharophimosis -- ptosis -- syndactyly -- mental retardation N/A N/A No information
Brachydactyly -- dwarfism -- mental retardation N/A N/A No information
Cleft lip -- palate -- mental retardation -- corneal opacity N/A N/A No information
Brachydactyly -- mesomelia -- mental retardation -- heart defects N/A N/A No information
Short stature mental retardation eye anomalies N/A N/A No information
Extrasystoles -- short stature -- hyperpigmentation -- microcephaly N/A N/A No information
Median cleft lip, corpus callosum, lipoma, and skin polyps N/A N/A No information
Polydactyly -- myopia syndrome N/A N/A No information
Mental retardation sparse hair brachydactyly 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 with brachydactyly and macroglossia N/A N/A No information
Intrinsic factor, congenital deficiency of 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
Abruzzo Erickson syndrome N/A N/A No information
Brachydactyly -- anonychia N/A N/A No information
Dwarfism, short-limb -- absent fibulas -- very short digits N/A N/A No information
Severe mental retardation and absent nails of hallux and pollex N/A N/A No information
Hypotelorism -- cleft palate -- hypospadias N/A N/A No information
Hypoplastic thumbs -- hydranencephaly N/A N/A No information
Pterygia -- mental retardation -- facial dysmorphism N/A N/A No information
Deafness -- goiter -- stippled epiphyses N/A N/A No information
Dwarfism -- deafness -- retinitis pigmentosa N/A N/A No information
Deafness -- enamel hypoplasia -- nail defects N/A N/A No information
Intracranial aneurysms -- multiple congenital anomaly N/A N/A No information
Deafness -- hypospadias -- metacarpal and metatarsal synostosis N/A N/A No information
Triose phosphate-isomerase deficiency N/A N/A No information
Delayed speech -- facial asymmetry -- strabismus -- ear lobe creases N/A N/A No information
Cleft palate -- stapes fixation -- oligodontia N/A N/A No information
Tibial aplasia -- ectrodactyly -- hydrocephalus N/A N/A No information
Microcephaly -- cervical spine fusion anomalies N/A N/A No information
Fetal brain disruption sequence N/A N/A No information
Deafness -- nephritis -- anorectal malformation N/A N/A No information
Deafness neurosensory -- pituitary dwarfism N/A N/A No information
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy N/A N/A No information
Dandy-Walker malformation postaxial polydactyly N/A N/A No information
Ophthalmoplegia, progressive external -- scoliosis N/A N/A No information
Epiphyseal dysplasia -- hearing loss -- dysmorphism N/A N/A No information
Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy N/A N/A No information
Deafness -- craniofacial syndrome N/A N/A No information
Microcephaly -- seizures -- mental retardation -- heart disorders N/A N/A No information
Deafness oligodontia syndrome N/A N/A No information
Deafness hyperuricemia neurologic ataxia N/A N/A No information
Deafness hypogonadism syndrome N/A N/A No information
Corneal dystrophy, epithelial basement membrane N/A N/A No information
Short rib-polydactyly syndrome, Verma-Naumoff type N/A N/A No information
Deafness, congenital onychodystrophy, recessive form N/A N/A No information
Syndromic Dystelephalangy N/A N/A No information
Deafness symphalangism N/A N/A No information
Polytopic Dystelephalangy N/A N/A No information
Dystelephalangy N/A N/A No information
Facial asymmetry -- temporal seizures N/A N/A No information
Split hand split foot nystagmus N/A N/A No information
Iris dysplasia hypertelorism deafness N/A N/A No information
Hypotrichosis, syndactyly and retinal degeneration N/A N/A No information
Deafness -- epiphyseal dysplasia -- short stature N/A N/A No information
Craniosynostosis -- cataract N/A N/A No information
Craniosynostosis -- intracranial calcifications N/A N/A No information
Craniosynostosis mental retardation clefting syndrome N/A N/A No information
Deafness -- pili torti -hypogonadism N/A N/A No information
Deafness onychodystrophy dominant form N/A N/A No information
Short stature -- Robin sequence -- cleft mandible -- hand anomalies -- clubfoot N/A N/A No information
Pachygyria -- mental retardation -- seizures N/A N/A No information
Deafness mixed with perilymphatic Gusher, X-linked N/A N/A No information
Ataxia-oculomotor apraxia syndrome N/A N/A No information
Deafness conductive -- ptosis -- skeletal anomalies N/A N/A No information
Oculo tricho anal syndrome N/A N/A No information
Deafness peripheral -- neuropathy -- arterial disease N/A N/A No information
Anophthalmia -- esophageal atresia -- cryptorchidism N/A N/A No information
Aortic arch anomaly with peculiar facies and mental retardation N/A N/A No information
Anophthalmos with limb anomalies N/A N/A No information
Deafness -- skeletal dysplasia -- lip granuloma N/A N/A No information
Mental Retardation, Joint Hypermobility With or without Metabolic Abnormalities N/A N/A No information
Polydactyly visceral anomalies cleft lip palate N/A N/A No information
Short stature -- craniofacial anomalies -- genital hypoplasia N/A N/A No information
Pterygia -- Mental retardation -- Distinctive Craniofacial Features N/A N/A No information
Distinctive Craniofacial Features -- Pterygia -- Mental Retardation N/A N/A No information
Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance N/A N/A No information
Craniosynostosis -- Dandy-Walker -- Hydrocephalus N/A N/A No information
Mental retardation athetosis microphthalmia N/A N/A No information
Mental retardation -- contractural arachnodactyly N/A N/A No information
Mental retardation -- skeletal dysplasia -- abducens palsy N/A N/A No information
Mental retardation -- multiple nevi N/A N/A No information
Microcephaly with spastic quadriplegia N/A N/A No information
Pontoneocerebellar Hypoplasi N/A N/A No information
Mental retardation -- short stature -- scoliosis N/A N/A No information
Short stature -- microcephaly -- seizures -- deafness N/A N/A No information
Overfolded helix N/A N/A No information
Mental retardation -- short stature -- unusual facies N/A N/A No information
Mental retardation -- nasal hypoplasia -- obesity -- genital hypoplasia N/A N/A No information
Mental retardation -- short stature -- absent phalanges N/A N/A No information
Mental retardation -- short stature -- deafness -- genital N/A N/A No information
Microcephaly -- mesobrachyphalangy -- tracheoesophageal fistula syndrome N/A N/A No information
Onychonychia -- hypoplastic distal phalanges 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
Micromelic dysplasia -- dislocation of radius N/A N/A No information
Reductional transverse limb defects N/A N/A No information
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance N/A N/A No information
Short limbs -- abnormal face -- congenital heart disease N/A N/A No information
Ataxia spastic congenital miosis N/A N/A No information
ATRUS syndrome N/A N/A No information
Aural atresia -- multiple congenital anomalies -- mental retardation N/A N/A No information
Auricular abnormalities -- cleft lip with or without cleft palate -- ocular abnormalities N/A N/A No information
Auriculoocular anomalies -- cleft lip N/A N/A No information
Congenital adrenal hyperplasia (CAH) N/A N/A No information
Congenital heart disease radio ulnar synostos mental retardation N/A N/A No information
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 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
Macrocephaly -- mental retardation -- facial dysmorphism N/A N/A No information
Macrocephaly mesodermal hamartoma spectrum N/A N/A No information
Macrostomia -- preauricular tags -- external ophthalmoplegia N/A N/A No information
Lymphoedema -- cleft palate N/A N/A No information
Unusual facies, macrocephaly, aplasia of corpus callosum, seizures, hypertrichosis, claw hands and overlapping fingers N/A N/A No information
Chorioretinopathy -- microcephaly, autosomal recessive N/A N/A No information
Unusual facies, arachnodactyly, hypogenitalism and failure to thrive N/A N/A No information
Limb reduction defect (generic term) N/A N/A No information
Facio-auriculo-radial dysplasia N/A N/A No information
Lethal arthrogryposis with anterior horn cell disease N/A N/A No information
Diabetes mellitus, permanent neonatal -- pancreatic and cerebellar agenesis N/A N/A No information
Midface hypoplasia, corneal clouding, subvalvular aortic stenosis and mental and somatic retardation N/A N/A No information
Lipoproteine lipase deficiency N/A N/A No information
Unusual facies, short webbed neck, mental retardation, short stature N/A N/A No information
Familial Dysbetalipoproteinemia N/A N/A No information
GM2-gangliosidosis, AB variant N/A N/A No information
Spinal muscular atrophy, type I, with congenital bone fractures N/A N/A No information
Familial Lactase Deficiency N/A N/A No information
Congenital lactase deficiency N/A N/A No information
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities N/A N/A No information
Congenital Lipomatous Overgrowth, Vascular Malformations and Epidermal Nevi 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
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
Glaucoma 3, primary congenital A N/A N/A No information
Glaucoma 3, primary infantile, B N/A N/A No information
Glaucoma, congenital 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
Microcephaly -- microphthalmia -- ectrodactyly of lower limbs -- prognathism N/A N/A No information
Familial Hypercholesterolemia N/A N/A No information
Tetralogy of Fallot N/A N/A No information
Transposition of the great arteries N/A N/A No information
Sickle cell crisis N/A N/A No information
Sickle Cell Anemia approx 1 in 34,000 or 0.00% or 8,000 people in USA 8,000 1 per 500 African American births; 1 per 1,000-1,400 Hispanic-American births
Thalassemia N/A N/A No information
Alpha thalassemia N/A N/A No information
Beta thalassemia N/A N/A No information
Atrial Septal Defect N/A N/A No information
Sternal malformation vascular dysplasia association N/A N/A No information
Undescended testes N/A N/A No information
Patella hypoplasia -- mental retardation 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
Orofaciodigital syndrome type1 N/A N/A No information
Oral facial digital syndrome, type 4 N/A N/A No information
Orofaciodigital syndrome, type 3 N/A N/A No information
Sugarman syndrome N/A N/A No information
Orofaciodigital syndrome type 10 N/A N/A No information
Orofaciodigital syndrome type Thurston type N/A N/A No information
Orofaciodigital syndrome type I N/A N/A No information
OFD syndrome type Figuera N/A N/A No information
Oral facial digital syndrome N/A N/A No information
Oral facial digital syndrome, type IV N/A N/A No information
OFD syndrome type IX N/A N/A No information
OFD syndrome type 8 N/A N/A No information
Edwards Syndrome approx 1 in 3,000 or 0.03% or 90,666 people in USA 90,666 1-in-3000 approximately.
Thurston syndrome N/A N/A No information
Orofaciodigital syndrome Thurston type N/A N/A No information
Orofaciodigital syndrome, Gabrielli type N/A N/A No information
Oculopalatocerebral syndrome N/A N/A No information
Otopalatodigital Syndrome Type I and II N/A N/A No information
Otopalatodigital Syndrome Type I N/A N/A No information
Oto-Palato-Digital Syndrome N/A N/A No information
Oto-Palato-digital syndrome type 1 N/A N/A No information
Oto-palato-digital syndrome, type 2 N/A N/A No information
Oculopalatoskeletal syndrome N/A N/A No information
Oligodactyly -- tetramelic postaxial N/A N/A No information
Pulmonary valves agenesis N/A N/A No information
Bone dysplasia -- corpus callosum agenesis N/A N/A No information
Craniofacial dyssynostosis N/A N/A No information
Left-sided gallbladder N/A N/A No information
Olivopontocerebellar atrophy -- deafness N/A N/A No information
Microencephaly N/A N/A No information
Hypercholesterolemia due to arg3500 mutation of Apo B-100 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, diffuse 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
Penis agenesis N/A N/A No information
Familial hyperlipoproteinemia type 3 N/A N/A No information
Giant congenital nevi N/A N/A No information
Triopia N/A N/A No information
Adactylia unilateral dominant N/A N/A No information
Hypobetalipoproteinemia, familial N/A N/A No information
Horseshoe kidney N/A N/A No information
Fibular aplasia N/A N/A No information
Familial hyperlipoproteinemia N/A N/A No information
Familial HDL deficiency N/A N/A No information
Congenital anosmia N/A N/A No information
Microcephaly nonsyndromal N/A N/A No information
Right ventricle hypoplasia N/A N/A No information
Congenital spherocytic anemia N/A N/A No information
Severe congenital neutropenia N/A N/A No information
Gangliosidosis GM1 type 3 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
Neuraminidase deficiency N/A N/A No information
Neuraminidase deficiency, type II, juvenile form N/A N/A No information
Alopecia immunodeficiency N/A N/A No information
Cockayne syndrome N/A N/A No information
Cockayne syndrome type 1 N/A N/A No information
Cockayne syndrome type 2 N/A N/A No information
Cockayne syndrome type 3 N/A N/A No information
Rothmund-Thomson Syndrome N/A N/A No information
Poikiloderma of Rothmund-Thomson N/A N/A No information
Facial ectodermal dysplasia N/A N/A No information
Setleis Syndrome N/A N/A No information
Focal facial dermal dysplasia, type II N/A N/A No information
Galloway-Mowat Syndrome N/A N/A No information
Galloway syndrome N/A N/A No information
Nephrosis neuronal dysmigration Syndrome N/A N/A No information
Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation N/A N/A No information
WAGR Syndrome N/A N/A No information
Aniridia N/A N/A No information
Aniridia III N/A N/A No information
Aniridia I N/A N/A No information
Aniridia II N/A N/A No information
Aniridia -- absent patella N/A N/A No information
Aniridia -- mental retardation syndrome N/A N/A No information
Aniridia, sporadic N/A N/A No information
Porencephaly N/A N/A No information
Poland Syndrome N/A N/A No information
Myhre Syndrome N/A N/A No information
Facial dysmorphism -- intellectual deficit -- short stature -- hearing loss N/A N/A No information
Partial agenesis of corpus callosum N/A N/A No information
Partial lissencephaly N/A N/A No information
Noonan syndrome 3 N/A N/A No information
Noonan-like/multiple giant cell lesion syndrome N/A N/A No information
Noonan-like syndrome N/A N/A No information
Neurofibromatosis-Noonan syndrome N/A N/A No information
Noonan Syndrome N/A N/A No information
Oculoauriculovertebral (OAV) dysplasia N/A N/A No information
Goldenhar Syndrome N/A N/A No information
Jackson-Weiss Syndrome N/A N/A No information
Branchio-oto-renal (BOR) syndrome, type 2 N/A N/A No information
Branchiootic syndrome N/A N/A No information
Branchiootic syndrome 1 N/A N/A No information
Branchiootic syndrome 2 N/A N/A No information
Branchiootic syndrome 3 N/A N/A No information
Branchio-Oto-Renal Syndrome N/A N/A No information
Branchio-Oculo-Facial Syndrome N/A N/A No information
Branchio-otoureteral syndrome N/A N/A No information
Branchio oculo facial syndrome Hing type N/A N/A No information
Branchio-skeleto-genital syndrome 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, congenital, with microcornea or slight microphthalmia N/A N/A No information
Cataract-glaucoma N/A N/A No information
Cerulean cataract 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
Cataract, crystalline aculeiform or frosted N/A N/A No information
Cataract, crystalline coralliform N/A N/A No information
Microcornea -- cataract -- coloboma syndrome N/A N/A No information
Cataract, autosomal recessive congenital 3 N/A N/A No information
Cataract, congenital, cerulean, type 1 N/A N/A No information
Cataract congenital dominant non nuclear N/A N/A No information
Cataract, microphthalmia and nystagmus N/A N/A No information
Cataract, congenital, Volkmann type N/A N/A No information
Cataract, congenital, cerulean, type 2 N/A N/A No information
Cataract, congenital, cerulean, type 3 N/A N/A No information
Microphthalmis, isolated, with cataract 1 N/A N/A No information
Cataract, total congenital N/A N/A No information
Cataract, congenital, autosomal dominant N/A N/A No information
Bifid nose N/A N/A No information
Oculocutaneous albinism, minimal pigment type N/A N/A No information
Albinism, minimal pigment type N/A N/A No information
Ocular albinism N/A N/A No information
Oculocutaneous albinism type 1 N/A N/A No information
Ocular albinism X-linked, recessive N/A N/A No information
Albinism N/A N/A No information
Oculocutaneous albinism, type 1A N/A N/A No information
Oculocutaneous albinism, type 1B N/A N/A No information
Oculocutaneous albinism N/A N/A No information
Rufous oculocutaneous albinism N/A N/A No information
Oculocutaneous albinism, type 2 N/A N/A No information
Oculocutaneous albinism, type 3 N/A N/A No information
Oculocutaneous albinism, type 4 N/A N/A No information
Albinism, ocular, autosomal recessive N/A N/A No information
Albinism ocular late onset sensorineural deafness N/A N/A No information
Tietz Albinism-Deafness Syndrome N/A N/A No information
Albinism-deafness of Tietz N/A N/A No information
Albinism deafness syndrome N/A N/A No information
Albinism immunodeficiency N/A N/A No information
Microcephaly albinism digital anomalies syndrome N/A N/A No information
Hypertrichosis retinopathy dysmorphism N/A N/A No information
Congenital benign spinal muscular atrophy dominant N/A N/A No information
Spinal muscular atrophy -- Dandy-Walker complex -- cataracts N/A N/A No information
Split hand -- split foot N/A N/A No information
Split hand -- split foot -- deafness N/A N/A No information
Microcephaly -- lymphoedema -- chorioretinopathy N/A N/A No information
Microcephaly -- lymphoedema -- Chorioretinopathy Dysplasia Syndrome N/A N/A No information
MLCRD Syndrome N/A N/A No information
Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome N/A N/A No information
Lymphoedema -- Microcephaly -- chorioretinopathy N/A N/A No information
Laryngeal web congenital heart disease short stature N/A N/A No information
Atrial Septal Defect 6 N/A N/A No information
Atrial Septal Defect 5 N/A N/A No information
Atrial Septal Defect 4 N/A N/A No information
Atrial Septal Defect 3 N/A N/A No information
Aglossia N/A N/A No information
Hypoglossia N/A N/A No information
Hypoglossia -- Hypodactylomelia N/A N/A No information
Hypoglossia -- Hypomelia N/A N/A No information
Hypoglossia -- Hypodactylia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylomelia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypomelia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia N/A N/A No information
Intraoral Bands -- Hypoglossia -- Hypodactylomelia N/A N/A No information
Intraoral Bands -- Hypoglossia N/A N/A No information
Intraoral Bands and Fusion N/A N/A No information
Aglossia-Hypoactylia syndrome N/A N/A No information
Micrognathia with Peromelia N/A N/A No information
Aglossia-Adactylia syndrome N/A N/A No information
Isolated Hypoglossia N/A N/A No information
Hypoglossia with Situs Inversus N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type III N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type II N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type I N/A N/A No information
Woolly hair, congenital 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
Congenital contractures N/A N/A No information
Congenital spherocytic hemolytic anemia N/A N/A No information
Homocystinuria N/A N/A No information
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 No information
Acidemia, methylmalonic N/A N/A No information
Carnosinase deficiency N/A N/A No information
Micrencephaly olivopontocerebellar hypoplasia N/A N/A No information
Nanophthalmos 1 N/A N/A No information
Nanophthalmos 2 N/A N/A No information
Nanophthalmos 3 N/A N/A No information
Nanophthalmia N/A N/A No information
Retinal degeneration -- nanophthalmos -- glaucoma N/A N/A No information
Coronary arteries -- congenital malformation N/A N/A No information
Congenital myotonic dystrophy N/A N/A No information
Alba/Geneva I dysfibrinogenemia N/A N/A No information
Adelaide I dysfibrinogenemia N/A N/A No information
Troyes dysfibrinogenemia N/A N/A No information
Saint Louis dysfibrinogenemia N/A N/A No information
Zurich II dysfibrinogenemia N/A N/A No information
Metz dysfibrinogenemia N/A N/A No information
Oslo dysfibrinogenemia N/A N/A No information
Leuven dysfibrinogenemia N/A N/A No information
Vancouver dysfibrinogenemia N/A N/A No information
Bethesda II dysfibrinogenemia N/A N/A No information
Dysfibrinogenemia, familial N/A N/A No information
Asahi I dysfibrinogenemia N/A N/A No information
Oklahoma dysfibrinogenemia N/A N/A No information
Aarhus dysfibrinogenemia N/A N/A No information
Nancy dysfibrinogenemia N/A N/A No information
Baltimore dysfibrinogenemia N/A N/A No information
Paris II dysfibrinogenemia N/A N/A No information
Detroit dysfibrinogenemia N/A N/A No information
Zurich I dysfibrinogenemia N/A N/A No information
Los Angeles dysfibrinogenemia N/A N/A No information
Paris I dysfibrinogenemia N/A N/A No information
Aarau dysfibrinogenemia N/A N/A No information
Bethesda I dysfibrinogenemia N/A N/A No information
Cleveland dysfibrinogenemia N/A N/A No information
Almeria I dysfibrinogenemia N/A N/A No information
Wiesbaden dysfibrinogenemia N/A N/A No information
Parma dysfibrinogenemia N/A N/A No information
Amiens I dysfibrinogenemia N/A N/A No information
Ales dysfibrinogenemia N/A N/A No information
Amsterdam dysfibrinogenemia N/A N/A No information
Brachydactyly type B N/A N/A No information
Brachydactyly type C N/A N/A No information
Brachydactyly type E N/A N/A No information
Brachydactyly type A1 N/A N/A No information
Brachydactyly type A3 N/A N/A No information
Brachydactyly type A6 N/A N/A No information
Brachydactyly types B and E combined N/A N/A No information
Brachydactyly with hypertension N/A N/A No information
Brachydactyly, type A5, nail dysplasia N/A N/A No information
Brachydactyly preaxial with hallux varus and thumb abduction N/A N/A No information
Brachydactyly, long thumb type N/A N/A No information
Brachydactyly -- scoliosis -- carpal fusion N/A N/A No information
Brachydactyly type A2 N/A N/A No information
Brachydactyly, type a7 N/A N/A No information
Brachydactyly -- absence of distal phalanges N/A N/A No information
Brachydactyly -- tibial hypoplasia N/A N/A No information
Brachydactyly -- arterial hypertension N/A N/A No information
Brachydactyly, type B2 N/A N/A No information
Brachydactyly type D N/A N/A No information
Split hand split foot mandibular hypoplasia N/A N/A No information
Arthrogryposis multiplex congenita type 2B N/A N/A No information
Arthrogryposis multiplex congenita -- pulmonary hypoplasia N/A N/A No information
Arthrogryposis multiplex congenita, distal, X-linked N/A N/A No information
Arthrogryposis multiplex congenita neurogenic type N/A N/A No information
Arthrogryposis multiplex congenita, distal type 1 N/A N/A No information
Arthrogryposis multiplex with deafness, inguinal hernias, and early death N/A N/A No information
Atrial septal defect 1 N/A N/A No information
Atrial septal defect 2 N/A N/A No information
Atrial septal defect atrioventricular conduction N/A N/A No information
Lymphoedema -- atrial septal defects -- facial changes N/A N/A No information
Congenital short bowel N/A N/A No information
Familial supernumerary nipples N/A N/A No information
Esophageal atresia N/A N/A No information
Lissencephaly, type 1, isolated, without known genetic defects N/A N/A No information
Neuropathy congenital sensory neurotrophic keratitis N/A N/A No information
Congenital insensitivity to pain syndrome N/A N/A No information
Brachymetatarsus IV N/A N/A No information
Congenital mitral stenosis N/A N/A No information
Lissencephaly type III -- metacarpal bone dysplasia N/A N/A No information
Niemann-Pick disease N/A N/A No information
Niemann-Pick disease, type A N/A N/A No information
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 No information
Niemann-Pick disease, type B N/A N/A No information
Bile acid synthesis defects N/A N/A No information
Bile acid synthesis defects, congenital, 1 N/A N/A No information
Bile acid synthesis defects, congenital, 2 N/A N/A No information
Bile acid synthesis defects, congenital, 3 N/A N/A No information
Bile acid synthesis defects, congenital, 4 N/A N/A No information
Malabsorption due to bile acid synthesis defects, idiopathic N/A N/A No information
Bile acid synthesis defect, congenital, 2 N/A N/A No information
Bile acid synthesis defect, congenital, 4 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
Trichorhinophalangeal Syndrome Type II N/A N/A No information
Trichorhinophalangeal Syndrome Type I N/A N/A No information
Trichorhinophalangeal syndrome type 1 N/A N/A No information
Trichorhinophalangeal syndrome type 3 N/A N/A No information
Trichorhinophalangeal Syndrome Type III N/A N/A No information
Trichorhinophalangeal syndrome type 2 N/A N/A No information
Cervical hypertrichosis neuropathy N/A N/A No information
Multiple congenital contractures N/A N/A No information
Atrioventricular Septal Defects N/A N/A No information
Atrioventricular septal defect N/A N/A No information
Hypoplastic Left Heart Syndrome N/A N/A No information
Heart defects -- limb shortening N/A N/A No information
Triphalangeal thumb, non opposable N/A N/A No information
Pena Shokeir syndrome, type 1 N/A N/A No information
Pena-Shokeir syndrome Type 2 N/A N/A No information
COFS syndrome N/A N/A No information
Cerebro-Oculo-Facio-Skeletal Syndrome N/A N/A No information
Heart-hand syndrome, Spanish type N/A N/A No information
Heart-hand syndrome, Slovenian type N/A N/A No information
Holt-Oram Syndrome N/A N/A No information
Wieacker-Wolff Syndrome N/A N/A No information
Insulin resistance, short fifth metacarpals N/A N/A No information
Aorto-ventricular tunnel N/A N/A No information
Adrenal hypoplasia congenital, X-linked N/A N/A No information
Lissencephaly syndrome type 1 N/A N/A No information
Microcephaly, primary autosomal recessive, 7 N/A N/A No information
Pancreatic beta cell agenesis with neonatal diabetes mellitus N/A N/A No information
Radial ray agenesis N/A N/A No information
Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency N/A N/A No information
Corpus callosum agenesis double urinary collecting system and trigonocephaly N/A N/A No information
Corpus callosum agenesis double urinary collecting N/A N/A No information
Proteus like syndrome mental retardation eye defect N/A N/A No information
Pancreas agenesis, dorsal N/A N/A No information
Lissencephaly, type 1, X-linked N/A N/A No information
Cleft lip with or without cleft palate N/A N/A No information
Cleft Palate and Cleft Lip N/A N/A No information
Cleft palate cardiac defect ectrodactyly N/A N/A No information
Cleft palate colobomata radial synostosis deafness N/A N/A No information
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss N/A N/A No information
Hereditary carnitine deficiency myopathy N/A N/A No information
Lissencephaly, X linked -- agenesis of the corpus callosum -- genital anomalies N/A N/A No information
Lissencephaly -- immunodeficiency N/A N/A No information
Lissencephaly, isolated N/A N/A No information
Lissencephaly with cerebellar hypoplasia 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 type 2 N/A N/A No information
Lissencephaly, X-linked 2 N/A N/A No information
Lissencephaly type 1, due to LIS 1 anomalies N/A N/A No information
Seckel syndrome 4 N/A N/A No information
Seckel syndrome 1 N/A N/A No information
Seckel syndrome 2 N/A N/A No information
Seckel syndrome 3 N/A N/A No information
Preaxial polydactyly type III N/A N/A No information
Seckel syndrome N/A N/A No information
Seckel-like syndrome, type Buebel N/A N/A No information
Seckel-like syndrome, Majoor-Krakauer type N/A N/A No information
Gordon Syndrome N/A N/A No information
Adams-Oliver Syndrome N/A N/A No information
Leprechaunism N/A N/A No information
Lenz Microphthalmia Syndrome N/A N/A No information
Arthrogryposis, distal, type 2A N/A N/A No information
Freeman-Sheldon Syndrome N/A N/A No information
Whistling face syndrome N/A N/A No information
Arthrogryposis, distal, type 2B N/A N/A No information
Cleft palate -- lateral synechia syndrome N/A N/A No information
Cutis laxa congenital N/A N/A No information
Congenital ichthyosiform erythroderma N/A N/A No information
Keratitis Ichthyosis Deafness Syndrome N/A N/A No information
Ichthyosis congenital -- biliary atresia N/A N/A No information
Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects N/A N/A No information
Hydrocephalus -- costovertebral dysplasia -- Sprengel anomaly N/A N/A No information
Ichthyosis congenita, harlequin type 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
Arthrogryposis -- hyperkeratosis, lethal form N/A N/A No information
Arthrogryposis -- ophthalmoplegia -- retinopathy N/A N/A No information
Arthrogryposis IUGR thoracic dystrophy N/A N/A No information
Arthrogryposis -- epileptic seizures -- migrational brain disorder N/A N/A No information
Campomelic dysplasia N/A N/A No information
Campomelic dwarfism N/A N/A No information
Camptomelic syndrome N/A N/A No information
Camptomelic dysplasia II N/A N/A No information
Campomelic Syndrome N/A N/A No information
Borjeson-Forssman-Lehmann Syndrome N/A N/A No information
Congenital giant megaureter 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
Hemolytic anaemia, lethal -- genital anomalies N/A N/A No information
Mental retardation -- short stature, Bombay phenotype N/A N/A No information
Congenital dislocation of the patella N/A N/A No information
Duane Syndrome N/A N/A No information
Duane-radial ray syndrome N/A N/A No information
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
Carpal deformity -- micrognathia -- microstomia N/A N/A No information
Double fingernail of fifth finger N/A N/A No information
Cerebro-facio-thoracic dysplasia N/A N/A No information
Dominant cleft palate N/A N/A No information
Cleft lip palate -- oligodontia -- syndactyly -- pili torti N/A N/A No information
Bifid nose dominant N/A N/A No information
Blepharophimosis syndrome Ohdo type N/A N/A No information
Madokoro-Ohdo-Sonoda syndrome N/A N/A No information
Cardiomyopathy -- hypogonadism -- metabolic anomalies N/A N/A No information
Absence of septum pellucidum with porencephalia syndrome N/A N/A No information
Acheiropodia N/A N/A No information
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation and Dysmorphic Features N/A N/A No information
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance N/A N/A No information
Ulna Hemimelia N/A N/A No information
Radial Hemimelia N/A N/A No information
Fibular Hemimelia N/A N/A No information
Hemimelia N/A N/A No information
Tracheal agenesis without tracheoesophageal fistula N/A N/A No information
Type 1 Tracheal agenesis without tracheoesophageal fistula N/A N/A No information
Type 2 Tracheal agenesis without tracheoesophageal fistula N/A N/A No information
Type 3 Tracheal agenesis without tracheoesophageal fistula N/A N/A No information
Congenital Toxoplasmosis N/A N/A No information
Meningomyelocele N/A N/A No information
Renal agenesis -- meningomyelocele -- mullerian defect N/A N/A No information
Anencephaly and spina bifida X-linked N/A N/A No information
Lipomyelomeningocele N/A N/A No information
Meningocele N/A N/A No information
Sacral meningocele -- conotruncal heart defects N/A N/A No information
Sacral defect and anterior sacral meningocele N/A N/A No information
Lateral meningocele syndrome N/A N/A No information
Perineal hemangioma -- external genitalia malformations -- lipomyelomeningocele -- vesicorenal abnormalities -- imperforate anus N/A N/A No information
Atlanto-Axial Fusion N/A N/A No information
Radiculomegaly of canine teeth -- congenital cataract N/A N/A No information
Dysmorphism -- abnormal vocalization -- mental retardation N/A N/A No information
Osteoporosis -- macrocephaly -- mental retardation -- blindness N/A N/A No information
Corpus callosum dysgenesis X-linked recessive N/A N/A No information
Nystagmus 1, congenital, X- linked N/A N/A No information
Nystagmus, congenital motor N/A N/A No information
Nystagmus, idiopathic congenital N/A N/A No information
Friedreich ataxia -- congenital glaucoma N/A N/A No information
Ataxia, spastic with congenital miosis N/A N/A No information
Ablinism I syndrome N/A N/A No information
Ablinism II syndrome N/A N/A No information
Beta ketothiolase deficiency N/A N/A No information
Malformations in neuronal migration N/A N/A No information
Myopathy, Mitochonrdrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay N/A N/A No information
Myopathy, Congenital, Compton-North N/A N/A No information
Myopathy, Congenital, Batten Turner Type N/A N/A No information
Glycine encephalopathy, atypical mild form N/A N/A No information
Glycine encephalopathy, classical neonatal early-onset form N/A N/A No information
Laryngeal webbing N/A N/A No information
Glycine encephalopathy, classical neonatal form N/A N/A No information
Glycine encephalopathy, classical neonatal late-onset form 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
Carnitine palmitoyl transferase II deficiency, myopathic N/A N/A No information
Congenital myopathy N/A N/A No information
Centronuclear myopathy, congenital N/A N/A No information
Batten-Turner muscular dystrophy N/A N/A No information
Muscular dystrophy, congenital, infantile with cataract -- hypogonadism N/A N/A No information
Muscular dystrophy, congenital, merosin-positive N/A N/A No information
Congenital muscular dystrophy syringomyelia N/A N/A No information
Muscular dystrophy, congenital, type 1C N/A N/A No information
Muscular dystrophy -- congenital infantile cataract -- hypogonadism N/A N/A No information
Muscular dystrophy congenital, with integrin deficiency N/A N/A No information
Syringomyelia N/A N/A No information
Tethered Spinal Cord Syndrome N/A N/A No information
Syringomyelia, cervical lesion N/A N/A No information
Syringomyelia, medulla oblongata lesion N/A N/A No information
Syringomyelia, lumbar lesion N/A N/A No information
Diaphragm. congenital absence N/A N/A No information
Fryns Syndrome N/A N/A No information
Microphthalmia diaphragmatic hernia Fallot N/A N/A No information
Hydrocephaly corpus callosum agenesis diaphragmatic hernia N/A N/A No information
Congenital diaphragmatic hernia N/A N/A No information
Nasopharyngeal teratoma with Dandy-Walker -- diaphragmatic hernia N/A N/A No information
Diaphragmatic hernia -- upper limb defects N/A N/A No information
Diaphragmatic hernia -- exomphalos -- corpus callosum agenesis N/A N/A No information
Diaphragmatic hernia, congenital N/A N/A No information
Diaphragmatic defect -- limb deficiency -- skull defect N/A N/A No information
Asternia with Cardiac, Diaphragmatic, and Abdominal defects N/A N/A No information
Diaphragmatic agenesis -- radial aplasia -- omphalocele N/A N/A No information
Shprintzen omphalocele syndrome N/A N/A No information
Omphalocele -- exstrophy -- imperforate anus N/A N/A No information
Paraomphalocele N/A N/A No information
Holoprosencephaly deletion 2p N/A N/A No information
Humeroradioulnar synostosis N/A N/A No information
Meningoencephalocele -- arthrogryposis -- hypoplastic thumb N/A N/A No information
Morel's ear 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
Congenital hepatic fibrosis N/A N/A No information
Wilms tumor and radial bilateral aplasia N/A N/A No information
Xanthine oxydase deficiency N/A N/A No information
Ceroid storage disease N/A N/A No information
Pontoneocerebellar Hypoplasia N/A N/A No information
Duplication of leg mirror foot N/A N/A No information
Tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities N/A N/A No information
Multicore disease N/A N/A No information
Pseudohermaphroditism, female -- skeletal anomalies N/A N/A No information
Mirror hand syndrome N/A N/A No information
Leg Duplication -- Mirror Foot 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 No information
Maple syrup urine disease, type 1A N/A N/A No information
Aortic arch interruption N/A N/A No information
Congenital heart disease -- radio ulnar synostosis -- mental retardation N/A N/A No information
Meinecke syndrome N/A N/A No information
Thoraco abdominal enteric duplication N/A N/A No information
Franek-Bocker-Kahlen syndrome N/A N/A No information
Microcephaly brain defect spasticity hypernatremia N/A N/A No information
Corpus callosum, agenesis of, blepharophimosis Robin type N/A N/A No information
Oculocerebral dysplasia N/A N/A No information
Diprosopia N/A N/A No information
Craniofacial dysostosis -- arthrogryposis -- progeroid appearence N/A N/A No information
Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies N/A N/A No information
Loffredo-Cennamo-Cecio syndrome N/A N/A No information
Guizar-Vasquez-Sanchez-Manzano syndrome 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
Cyclic neutropenia N/A N/A No information
Benign congenital hypotonia N/A N/A No information
Common ventricle N/A N/A No information
Imperforate anus 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
Crossed polydactyly N/A N/A No information
Hirschsprung disease, susceptibility to, 8 N/A N/A No information
Hirschsprung disease, susceptibility to, 9 N/A N/A No information
Hirschsprung disease -- deafness -- polydactyly N/A N/A No information
Hirschsprung's disease N/A N/A No information
Hirschsprung Disease N/A N/A No information
Hirschsprung disease type 2 N/A N/A No information
Hirschsprung disease type 3 N/A N/A No information
Hirschsprung disease, short-segment, type 2 N/A N/A No information
Hirschsprung disease, short-segment, type 3 N/A N/A No information
Al Gazali Hirschsprung syndrome N/A N/A No information
Hirschsprung disease type D brachydactyly N/A N/A No information
Hirschsprung disease -- polydactyly -- heart disease N/A N/A No information
Hirschsprung -- microcephaly -- cleft palate N/A N/A No information
Hirschsprung disease, susceptibility to, 4 N/A N/A No information
Hirschsprung disease, susceptibility to, 5 N/A N/A No information
Hirschsprung disease, susceptibility to, 6 N/A N/A No information
Hirschsprung disease, susceptibility to, 7 N/A N/A No information
Cornelia de Lange Syndrome N/A N/A No information
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
Velocardiofacial syndrome approx 1 in 3,000 or 0.03% or 90,666 people in USA 90,666 1-in-3000 approximately.
DiGeorge's syndrome N/A N/A No information
DiGeorge syndrome N/A N/A No information
Deletion 22q11 N/A N/A No information
Chromosome 22q11 Deletion Spectrum N/A N/A No information
CATCH 22 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 No information
Chromosome 22q11 deletion N/A N/A No information
Coffin-Siris Syndrome N/A N/A No information
Femoral Hypoplasia-Unusual Facies Syndrome N/A N/A No information
Distichiasis with Congenital Anomalies of the heart and Peripheral Vasculature N/A N/A No information
Angelman syndrome N/A N/A No information
Vildervanck syndrome 4 N/A N/A No information
Wildervanck syndrome 2 N/A N/A No information
Wildervanck syndrome 3 N/A N/A No information
Wildervanck syndrome N/A N/A No information
Miller Syndrome N/A N/A No information
Genee-Wiedemann syndrome 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
Thalamic degeneration symmetrical infantile N/A N/A No information
Infantile striato-thalamic degeneration N/A N/A No information
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency N/A N/A No information
Fibrosis of extraocular muscles, congenital, 3A N/A N/A No information
Craniosynostosis contractures cleft N/A N/A No information
Preaxial polydactyly, type 1 N/A N/A No information
Atypical coarctation of aorta N/A N/A No information
Asphyxiating Thoracic Dystrophy 3 N/A N/A No information
Asphyxiating Thoracic Dystrophy 2 N/A N/A No information
Asphyxiating Thoracic Dystrophy N/A N/A No information
Thoracic dysplasia -- hydrocephalus syndrome N/A N/A No information
Apo A-I deficiency N/A N/A No information
Micromelic bone dysplasia with cloverleaf skull N/A N/A No information
Brachydactyly nystagmus cerebellar ataxia N/A N/A No information
Growth deficiency brachydactyly unusual facies N/A N/A No information
Polysyndactyly orofacial anomalies N/A N/A No information
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly N/A N/A No information
Polydactyly postaxial dental and vertebral N/A N/A No information
Craniofrontonasal syndrome Teebi type N/A N/A No information
Pure red cell aplasia, congenital N/A N/A No information
Microphthalmia, Lentz type N/A N/A No information
Microphthalmia N/A N/A No information
Microphthalmia, syndromic 1 N/A N/A No information
Microphthalmia -- camptodactyly -- mental retardation N/A N/A No information
Ptosis -- coloboma -- trigonocephaly N/A N/A No information
Microphthalmia associated with colobomatous cyst N/A N/A No information
Pericardium absent -- mental retardation -- short stature N/A N/A No information
Pulmonary arteriovenous malformation N/A N/A No information
Thyroid agenesis N/A N/A No information
Symphalangism -- brachydactyly -- craniosynostosis N/A N/A No information
Methionine adenosyltransferase deficiency N/A N/A No information
Renal dysplasia, diffuse cystic N/A N/A No information
Ptosis -- coloboma -- mental retardation N/A N/A No information
Onychodystrophy and anonychia with type B brachydactyly and ectrodactyly N/A N/A No information
Hypoplastic right heart -- microcephaly N/A N/A No information
Microcephaly -- pontocerebellar hypoplasia -- dyskinesia N/A N/A No information
Pulmonary artery agenesis N/A N/A No information
Cerebral palsy, spastic, diplegic N/A N/A No information
Dandy Walker syndrome recessive form N/A N/A No information
Biliary atresia, intrahepatic, non syndromic form N/A N/A No information
Hypoglycemia with deficiency of glycogen synthetase in the liver N/A N/A No information
Congenital herpes simplex N/A N/A No information
Congenital cardiovascular malformations N/A N/A No information
Biliary atresia, intrahepatic, syndromic form N/A N/A No information
Down Syndrome approx 1 in 800 or 0.12% or 340,000 people in USA 340,000 1-in-800 overall births
Patau syndrome approx 1 in 5,000 or 0.02% or 54,400 people in USA 54,399 1-in-5000 approximately.
Cri-du-chat syndrome N/A N/A No information
Purine nucleoside phosphorylase (PNP) deficiency N/A N/A No information
Phenylketonuria approx 1 in 10,000 or 0.01% or 27,200 people in USA 27,199 1 of every 10,000 infants in the United States (NIDCD)
Tay-Sachs disease -- adult onset N/A N/A No information
Tay Sachs N/A N/A No information
Tay Sachs Disease N/A N/A No information
Galactosemia N/A N/A No information
Classic galactosemia N/A N/A No information
Galactokinase deficiency N/A N/A No information
Fructosuria N/A N/A No information
Fragile-X Syndrome approx 1 in 3,000 or 0.03% or 90,666 people in USA 90,666 about 1 in 1500 males1.
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
Glycogenosis, type 0 N/A N/A No information
Glycogenosis type 2 N/A N/A No information
Familial hyperlipoproteinemia type 4 N/A N/A No information
Apolipoprotein C 2I deficiency N/A N/A No information
Hereditary macrothrombocytopenia N/A N/A No information
Blepharoptosis -- aortic anomaly N/A N/A No information
Congenital amegakaryocytic thrombocytopenia N/A N/A No information
Anotia -- facial palsy -- cardiac defect N/A N/A No information
Conotruncal heart malformations N/A N/A No information
Citrulline transport defect N/A N/A No information
Congenital pseudoarthrosis N/A N/A No information
Inborn branched chain aminoaciduria N/A N/A No information
Aromatic amino acid decarboxylase deficiency N/A N/A No information
Cholestasis -- pigmentary retinopathy -- cleft palate N/A N/A No information
Coloboma of macula N/A N/A No information
Edward Syndrome N/A N/A No information
Cholesteryl ester transfer protein deficiency N/A N/A No information
Adrenal hyperplasia, congenital type 3 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
Fibular dimelia -- diplopodia N/A N/A No information
Gingival fibromatosis, unusual facies, cafe-au-lait pigmentation and congenital skin telangiectases N/A N/A No information
Hyperprolinemia type 2 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 No information
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 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
$3-Hydroxyacyl-CoA Dehydrogenase II Deficiency$ 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
Infantile Refsum Disease N/A N/A No information
Succinic acidemia -- lactic acidosis, congenital N/A N/A No information
Succinic acidemia N/A N/A No information
Isobutyric aciduria N/A N/A No information
Glutaric aciduria 2 N/A N/A No information
$2-Methylbutyric Aciduria$ N/A N/A No information
Lactic Acidosis, Fatal Infantile N/A N/A No information
Orotic aciduria purines-pyrimidines N/A N/A No information
Argininosuccinic aciduria N/A N/A No information
Ethylmalonic aciduria N/A N/A No information
Malonic aciduria N/A N/A No information
Glutaricaciduria I N/A N/A No information
Glutaric Aciduria, neonatal form of type II A N/A N/A No information
Dibasic aminoaciduria 2 N/A N/A No information
$2-Hydroxyglutaricaciduria$ N/A N/A No information
Orotic aciduria hereditary N/A N/A No information
$3-Hydroxyisobutyric aciduria$ N/A N/A No information
Fumaric aciduria N/A N/A No information
Dibasic aminoaciduria type 1 N/A N/A No information
Infantile sialic acid storage disorder 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
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
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
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 No information
Isovaleric academia N/A N/A No information
Propionic academia N/A N/A No information
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
Glucocorticoid resistance 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
Valinemia N/A N/A No information
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency N/A N/A No information
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 No information
Fructose-1-phosphate aldolase deficiency, hereditary N/A N/A No information
Arginase deficiency N/A N/A No information
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 No information
Hemochromatosis type 2 N/A N/A No information
Hemochromatosis type 1 N/A N/A No information
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
Focal cortical dysplasia N/A N/A No information
Focal cortical dysplasia type II N/A N/A No information
Focal cortical dysplasia type IIA N/A N/A No information
Focal cortical dysplasia type IIB N/A N/A No information
Non-lissencephalic cortical dysplasia 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 No information
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 No information
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 No information
Citrullinemia II N/A N/A No information
$3-methylcrotonyl-CoA carboxylase deficiency$ N/A N/A No information
Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type N/A N/A No information
$4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency$ N/A N/A No information
Carbamoyl-phosphate synthase 1 deficiency N/A N/A No information
Biotinidase deficiency N/A N/A No information
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 No information
Hyperprolinemia type I N/A N/A No information
N-acetyl glutamate synthetase deficiency N/A N/A No information
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency N/A N/A No information
Carnitine transporter deficiency N/A N/A No information
Ornithine transcarbamylase (OTC) Deficiency N/A N/A No information
Glutathionuria N/A N/A No information
$2-methylbutyryl-coenzyme A dehydrogenase deficiency$ N/A N/A No information
Citrullinemia I N/A N/A No information
Argininosuccinase lyase deficiency, neonatal 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 No information
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 No information
Short-Chain Acyl-CoA Dehydrogenase Deficiency N/A N/A No information
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
Gaucher Disease N/A N/A No information
Fabry's Disease N/A N/A No information
Krabbé Disease N/A N/A No information
Metachromatic Leukodystrophy N/A N/A No information
Isobutyryl-coenzyme A dehydrogenase deficiency N/A N/A No information
Adenosine triphosphatase deficiency, anemia due to N/A N/A No information
ADP platelet receptor P2Y12, deficiency of N/A N/A No information
Lysinuric protein intolerance N/A N/A No information
Glycoprotein storage disease N/A N/A No information
Electron Transfer Flavoprotein, deficiency of N/A N/A No information
Encephalopathy due to sulphite oxidase deficiency N/A N/A No information
Congenital thrombotic disease due to protein C deficiency N/A N/A No information
Immunodeficiency due to defect in MAPBP-interacting protein N/A N/A No information
Homozygous protein C deficiency N/A N/A No information
Hemoglobin E disease N/A N/A No information
Natal teeth, intestinal pseudoobstruction and patent ductus N/A N/A No information
Natal teeth intestinal pseudoobstruction patent ductus N/A N/A No information
Patent ductus arteriosus N/A N/A No information
Intrathoracic kidney -- vertebral fusion N/A N/A No information
Adducted thumb syndrome recessive form N/A N/A No information
Ichthyosis -- deafness -- mental retardation -- skeletal anomaly N/A N/A No information
Heterotaxia autosomal dominant type N/A N/A No information
Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia N/A N/A No information
Visceral neuropathy -- brain anomalies -- facial dysmorphism -- developmental delay N/A N/A No information
Agnathia-holoprosencephaly-situs inversus N/A N/A No information
Situs inversus viscerum-cardiopathy N/A N/A No information
Agnathia-microstomia-synotia N/A N/A No information
Dosage-sensitive sex reversal N/A N/A No information
Kuster syndrome N/A N/A No information
Congenital disorder of glycosylation type 1D 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 SC N/A N/A No information
Hemoglobin S-G (S-D) 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
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
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
Glomerulonephritis, membranous congenital due to anti-maternal neutral endopeptidase alloimmunisation N/A N/A No information
Familial hypertryptophanemia N/A N/A No information
Hereditary hyperuricemia N/A N/A No information
Hyperornithinemia N/A N/A No information
Hyperpipecolatemia 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
Mevalonic aciduria 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
Heavy-chain diseases 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
Antithrombin Deficiency, type II N/A N/A No information
Antithrombin III deficiency, congenital N/A N/A No information
Congenital Antithrombin III Deficiency N/A N/A No information
Congenital mitral malformation N/A N/A No information
Mitral atresia N/A N/A No information
Cerebellar agenesis 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
Nevoid basal cell carcinoma syndrome N/A N/A No information
Fibrinogen deficiency, congenital N/A N/A No information
Congenital Afibrinogenemia N/A N/A No information
Hypertryptophanemia N/A N/A No information
Anemia, Blackfan Diamond N/A N/A No information
Dyserythropoietic anemia, congenital N/A N/A No information
Hyperprolinaemia type I N/A N/A No information
Hemolytic anaemia due to adenylate kinase deficiency N/A N/A No information
Hemolytic anemia due to adenylate kinase deficiency N/A N/A No information
Histidinemia N/A N/A No information
Pierre Robin's sequence N/A N/A No information
Pierre-Robin syndrome with fetal chondrodysplasia N/A N/A No information
Pierre Robin sequence -- congenital heart defect -- talipes N/A N/A No information
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies N/A N/A No information
Hepatorenal tyrosinemia N/A N/A No information
Del Castillo's syndrome N/A N/A No information
Cooley syndrome N/A N/A No information
Congenital tuberculosis N/A N/A No information
Diamond-Blackfan anemia N/A N/A No information
Non-ketotic hyperglycinemia N/A N/A No information
Hereditary non-spherocytic hemolytic anemia N/A N/A No information
Oculocutaneous tyrosinemia N/A N/A No information
X-linked mental retardation craniofacial abnormal microcephaly club N/A N/A No information
Sarcosinemia 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
Dyserythropoietic anemia, congenital type 1 N/A N/A No information
Dyserythropoietic anemia, congenital type 2 N/A N/A No information
Dyserythropoietic anemia, congenital type 3 N/A N/A No information
Sideroblastic anemia, autosomal 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
Tricuspid atresia 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
Fibrosis of extraocular muscles, congenital, 2 N/A N/A No information
Fibrosis of extraocular muscles, congenital, 3 N/A N/A No information
Fibrosis of extraocular muscles, congenital with synergistic divergence N/A N/A No information
Hypomyelination and congenital cataract N/A N/A No information
Fibrosis of extraocular muscles, congenital (FEOM) N/A N/A No information
Fibrosis of extraocular muscles, congenital, 1 N/A N/A No information
Unilateral pulmonary agenesis N/A N/A No information
Congenital adrenal hyperplasia -- sodium-wasting form N/A N/A No information
Atransferrinemia 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
Alacrimia, congenital N/A N/A No information
Congenital analbuminemia N/A N/A No information
Debler anemia N/A N/A No information
Anaemia, sideroblastic, X-linked -- ataxia N/A N/A No information
Classical Potter syndrome N/A N/A No information
Potter syndrome type 2 N/A N/A No information
Potter syndrome type 4 N/A N/A No information
Potter syndrome N/A N/A No information
Familial dysalbuminemic hyperthyroxinemia N/A N/A No information
X-linked dyserythropoietic anaemia and thrombocytopenia 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
Saccharopinuria 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
Ectopia pupillae N/A N/A No information
Elliptocytosis 1 N/A N/A No information
Aspartylglycosaminuria 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
Sialuria syndrome N/A N/A No information
Iminoglycinuria N/A N/A No information
Sialuria, French type N/A N/A No information
Methylmalonic aciduria -- microcephaly -- cataract N/A N/A No information
Inborn renal aminoaciduria N/A N/A No information
Pentosuria N/A N/A No information
Mauriac syndrome N/A N/A No information
Renal glucosuria N/A N/A No information
Hypotonia-cystinuria syndrome N/A N/A No information
Sialuria, Finnish type N/A N/A No information
Aminoacidopathies N/A N/A No information
Cystic adenomatoid malformation of lung N/A N/A No information
Congenital hepatic porphyria N/A N/A No information
Porphyria Cutanea Tarda -- familial N/A N/A No information
Erythropoietic Protoporphyria N/A N/A No information
Variegate porphyria N/A N/A No information
Acute intermittent porphyria N/A N/A No information
Porphyria, Ala-D N/A N/A No information
Protoporphyria erythropoietic N/A N/A No information
Porphyria cutanea tarda, familial type N/A N/A No information
Porphyria, congenital erythropoietic N/A N/A No information
Childhood-onset cerebral X-linked adrenoleukodystrophy N/A N/A No information
Neoplastic porphyria tarda N/A N/A No information
Porphyria, hereditary coproporphyria N/A N/A No information
Cerebellar hypoplasia N/A N/A No information
Protoporphyria N/A N/A No information
Porphyria cutanea tarda, sporadic type N/A N/A No information
Cerebellar ataxia -- ectodermal dysplasia N/A N/A No information
Cerebellar ataxia -- areflexia -- pes cavus -- optic atrophy -- sensorineural hearing loss N/A N/A No information
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss N/A N/A No information
Cerebellar hypoplasia -- tapetoretinal degeneration N/A N/A No information
Cerebellar vermis hypoplasia -- oligophrenia -- congenital ataxia -- coloboma -- hepatic fibrosis N/A N/A No information
Cerebral calcification cerebellar hypoplasia N/A N/A No information
Anemia, sideroblastic spinocerebellar ataxia N/A N/A No information
Myelocerebellar disorder N/A N/A No information
Myoclonus, cerebellar ataxia, deafness N/A N/A No information
Coloboma chorioretinal cerebellar vermis aplasia N/A N/A No information
Prosencephaly -- cerebellar dysgenesis N/A N/A No information
Porencephaly -- cerebellar hypoplasia -- malformations N/A N/A No information
Congenital adrenal hyperplasia -- simple virilizing form in females N/A N/A No information
Adrenal Hyperplasia, Congenital (General) N/A N/A No information
Attenuated congenital adrenal hyperplasia N/A N/A No information
Non Classic Congenital Adrenal Hyperplasia N/A N/A No information
Lipoid congenital adrenal hyperplasia N/A N/A No information
Congenital adrenal hyperplasia -- non-classical form N/A N/A No information
Congenital adrenal hyperplasia -- simple virilizing form in males N/A N/A No information
Intrauterine growth retardation -- metaphyseal dysplasia -- adrenal hypoplasia congenita -- genital anomalies N/A N/A No information
Leukodystrophy, pseudometachromatic N/A N/A No information
Adrenoleukodystrophy, autosomal, neonatal form N/A N/A No information
Pseudoadrenoleukodystrophy N/A N/A No information
Dermatoleukodystrophy N/A N/A No information
Copper deficiency, familial benign N/A N/A No information
Van Bogaert-Hozay syndrome N/A N/A No information
Thrombotic thrombocytopenic purpura, congenital N/A N/A No information
Macroglossia N/A N/A No information
Thrombasthenia 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
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 No information
Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech N/A N/A No information
Primary glaucoma, congenital N/A N/A No information
Adactylia unilateral N/A N/A No information
Coloboma porencephaly hydronephrosis N/A N/A No information
Coloboma of lens ala nasi N/A N/A No information
Cystinosis, ocular nonnephropathic N/A N/A No information
Oligomeganephronic renal hypoplasia N/A N/A No information
Hydronephrosis congenital N/A N/A No information
Multicystic renal dysplasia, bilateral N/A N/A No information
Coloboma of choroid and retina N/A N/A No information
Cleft palate, X-linked N/A N/A No information
Anorectal atresia 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
Bilateral Renal Agenesis N/A N/A No information
Renal dysplasia -- limb defects syndrome 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
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
Miescher's syndrome N/A N/A No information
Ectodermal dysplasia -- mental retardation -- central nervous system malformation N/A N/A No information
Developmental malformations -- deafness -- dystonia N/A N/A No information
Split-Hand/Foot Malformation with Long Bone Deficiency 3 N/A N/A No information
Split-Hand/Foot Malformation with Long Bone Deficiency 2 N/A N/A No information
Diarrhea 2, with Microvillous Atrophy N/A N/A No information
Congenital Diarrhea, Secretory Sodium, Syndromic, 3 N/A N/A No information
Congenital Diarrhea, Secretory Sodium, 3 N/A N/A No information
Enteric Anendocrinosis N/A N/A No information
Congenital Malabsorptive Diarrhea, 4 N/A N/A No information
Diarrhea chronic with villous atrophy N/A N/A No information
Congenital chloride diarrhea N/A N/A No information
Syndromic diarrhea N/A N/A No information
Intractable diarrhea with enterocytes assembly abnormalities, congenital, familial N/A N/A No information
Chondrodysplasia, type Nance-Sweeney N/A N/A No information
OSMED, Homozygous N/A N/A No information
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 N/A N/A No information
Vaginal atresia N/A N/A No information
Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis N/A N/A No information
Richieri-Costa Pereira syndrome N/A N/A No information
Faciocardiomelic Syndrome N/A N/A No information
Endocrine-Cerebroosteodysplasia N/A N/A No information
Heterotopia, Periventricular, Associated with Chromosome 5q Deletion N/A N/A No information
Spondyloepimetaphyseal Dysplasia, Aggrecan Type N/A N/A No information
Cousin Walbrau Cegarra Syndrome N/A N/A No information
Peromelia N/A N/A No information
Jussieu syndrome N/A N/A No information
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 N/A N/A No information
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 N/A N/A No information
Megarbane-Jalkh Syndrome N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type V N/A N/A No information
Dursun Syndrome N/A N/A No information
Microcephaly-Faciocardioskeletal syndrome N/A N/A No information
Zechi-Ceide Syndrome N/A N/A No information
Apparent mineralocorticoid excess N/A N/A No information
Minicore disease N/A N/A No information
Split-hand deformity N/A N/A No information
Split Hand/Split Foot Malformation N/A N/A No information
Motor and cognitive disorder due to sepiapterin reductase deficiency N/A N/A No information
Marfanoid syndrome, da Silva type N/A N/A No information
NOMID syndrome N/A N/A No information
Gloomy syndrome N/A N/A No information
Plasmalogenes synthesis deficiency isolated N/A N/A No information
Chondrodysplasia -- disorder of sex development N/A N/A No information
Piepkorn karp hickoc syndrome N/A N/A No information
Zunich-Kaye syndrome N/A N/A No information
Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys N/A N/A No information
Blepharophimosis with ptosis, syndactyly, and short stature N/A N/A No information
Dwarfism lethal type advanced bone age N/A N/A No information
Crumpled helices and small mouth N/A N/A No information
Hydrocephalus -- Skeletal Anomalies -- Mental Disturbance N/A N/A No information
Hydrocephalus skeletal anomalies N/A N/A No information
Morning Glory Fundus Anomaly -- Optic Nerve Coloboma -- Porencephaly -- Hydronephrosis N/A N/A No information
Barrow-Fitzsimmons Syndrome N/A N/A No information
Thumb deformity N/A N/A No information
Thomas Syndrome -- Potter Sequence with cleft lip/palate and cardiac anomalies N/A N/A No information
Pulmonary artery coming from the aorta N/A N/A No information
Esophageal atresia associated anomalies N/A N/A No information
Short stature deafness neutrophil dysfunction dysmorphism N/A N/A No information
Hemangioma, capillary infantile N/A N/A No information
Tetra-Amelia, Autosomal Recessive N/A N/A No information
Overgrowth radial ray defect arthrogryposis N/A N/A No information
Esophageal Atresia, Coloboma, Clubfoot N/A N/A No information
Right pulmonary artery, anomalous origin of, familial N/A N/A No information
Leiomyomatosis of oesophagus, congenital cataract and hematuria N/A N/A No information
Mastroiacovo de rosa satta syndrome N/A N/A No information
Congenital brain dysgenesis due to glutamine synthetase deficiency N/A N/A No information
Lop ears, Micrognathia and Conductive Hearing Loss N/A N/A No information
Split-Hand/Foot Malformation with Long Bone Deficiency 1 N/A N/A No information
Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality N/A N/A No information
Talonavicular coalition N/A N/A No information
Craniosynostosis cleft lip palate arthrogryposis N/A N/A No information
Lymphatic malformation (LM) N/A N/A No information
Pierson Syndome N/A N/A No information
Microcephaly -- facial clefting -- preaxial polydactyly N/A N/A No information
Hyperreninemic Hypoaldosteronism, Familial 2 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
Colobomata unilobar lung heart defect N/A N/A No information
Epimetaphyseal dysplasia cataract N/A N/A No information
Abuelo Forman Rubin Syndrome N/A N/A No information
Familial Treacher Collins syndrome N/A N/A No information
Absent duct of Santorini N/A N/A No information
Dyssegmental dysplasia N/A N/A No information
Autosomal Recessive Tetra-Amelia N/A N/A No information
Congenital Gigantism with Skeletal Dysplasia N/A N/A No information
Tracheoesophageal fistula symphalangism N/A N/A No information
Prosopagnosia, congenital N/A N/A No information
Collins-Dennis-Clarke-Pope Syndrome N/A N/A No information
Coleman Randall syndrome N/A N/A No information
Corpus callosum dysgenesis cleft spasm N/A N/A No information
Aksu von Stockhausen syndrome N/A N/A No information
Cataract skeletal anomalies N/A N/A No information
Pulmonary lymphangiectasia, congenital 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
Multiple vertebral anomalies unusual facies N/A N/A No information
Lawrence-Seuo syndrome N/A N/A No information
Arena synddrome 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
Beare-Stevenson cutis gyrate syndrome N/A N/A No information
Glass-Chapman-Hockley syndrome N/A N/A No information
Glass chapman hockley syndrome de N/A N/A No information
Apparent Mineralocorticoid Excess, type 2 N/A N/A No information
Mirror polydactyly -- vertebral segmentation -- limbs defects N/A N/A No information
Mental mixed retardation deafnes clubbed digits 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
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
Absent patella N/A N/A No information
Norman-Roberts lissencephaly syndrome N/A N/A No information
Lundberg I N/A N/A No information
Chondrodystrophia punctata, autosomal dominant N/A N/A No information
HARD syndrome (Hydrocephalus -- agyria -- retinal dysplasia) N/A N/A No information
Paraplegia -- brachydactyly -- cone-shaped epiphysis N/A N/A No information
Wolfram's disease N/A N/A No information
Hypoplasia of the tibia with polydactyly N/A N/A No information
Accessory pancreas N/A N/A No information
Segmental vertebral anomalies N/A N/A No information
Short stature, Brussels type N/A N/A No information
Alopecia congenita keratosis palmoplantaris 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
Robinow-like syndrome N/A N/A No information
Robinow-Unger syndrome N/A N/A No information
Liver disease -- retinitis pigmentosa -- polyneuropathy -- epilepsy N/A N/A No information
Alport syndrome -- mental retardation -- midface hypoplasia -- elliptocytosis N/A N/A No information
Alport Syndrome 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
Hereditary primary Fanconi disease N/A N/A No information
Anonychia onychodystrophy brachydactyly type b N/A N/A No information
Anonychia N/A N/A No information
Anonychia with flexural pigmentation N/A N/A No information
Anophthalmia cleft lip palate hypothalamic disorder N/A N/A No information
Anophthalmia/microphthalmia -- esophageal atresia N/A N/A No information
Anophthalmia -- Microphthalmia, isolated N/A N/A No information
Anophthalmia -- heart and pulmonary anomalies -- intellectual deficit 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
Double outlet -- right ventricle I N/A N/A No information
Double outlet right ventricle N/A N/A No information
Double outlet -- right ventricle II N/A N/A No information
Double outlet -- right ventricle IV N/A N/A No information
Double outlet -- left ventricle N/A N/A No information
Polydactyly postaxial N/A N/A No information
Oral-facial cleft N/A N/A No information
Polydactyly, postaxial -- dental and vertebral anomalies N/A N/A No information
Polydactyly alopecia seborrheic dermatitis N/A N/A No information
Polydactyly preaxial type 1 N/A N/A No information
Polydactyly, preaxial IV N/A N/A No information
Supernumerary nipples N/A N/A No information
Polydactyly cleft lip palate psychomotor retardation N/A N/A No information
Syndactyly -- preaxial polydactyly -- sternal deformity N/A N/A No information
Brain malformation -- congenital heart disease -- postaxial polydactyly N/A N/A No information
Hypopituitarism postaxial polydactyly N/A N/A No information
Short rib-polydactyly syndrome, Majewski type N/A N/A No information
Short rib-polydactyly syndrome, Saldino-Noonan type N/A N/A No information
Ulnar hypoplasia lobster claw deformity of feet N/A N/A No information
Short rib -- polydactyly syndrome N/A N/A No information
Ectodermal dysplasia -- alopecia -- preaxial polydactyly N/A N/A No information
Scalp defects -- postaxial polydactyly N/A N/A No information
Mirror polydactyly -- segmentation and limbs defects N/A N/A No information
Syndactyly -- polydactyly -- ear lobe syndrome N/A N/A No information
Crossed polydactyly type 1 N/A N/A No information
Anonychia -- ectrodactyly N/A N/A No information
Larynx atresia N/A N/A No information
Thumb absence -- hypoplastic halluces N/A N/A No information
Tibia absent -- polydactyly -- arachnoid cyst N/A N/A No information
Ectrodactyly -- polydactyly N/A N/A No information
Cortical blindness -- mental retardation -- polydactyly N/A N/A No information
Crossed polysyndactyly N/A N/A No information
Rigid mask-like face -- deafness -- polydactyly N/A N/A No information
Pierre Robin syndrome skeletal dysplasia polydactyly N/A N/A No information
Maxillary double lip N/A N/A No information
Trigonomacrocephaly -- tibial defect -- polydactyly N/A N/A No information
Hypothyroidism postaxial polydactyly mental retardation N/A N/A No information
Cleft palate -- heart disease -- polydactyly -- absent tibia N/A N/A No information
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia N/A N/A No information
Megalencephaly -- polymicrogyria -- post-axial polydactyly -- hydrocephalus N/A N/A No information
Mullerian derivatives -- lymphangiectasia -- polydactyly N/A N/A No information
Urophathy distal obstructive polydactyly N/A N/A No information
Phocomelia ectrodactyly deafness sinus arrhythmia N/A N/A No information
Polysyndactyly overgrowth syndrome N/A N/A No information
Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia N/A N/A No information
Cephalopolysyndactyly N/A N/A No information
Limb deficiencies distal micrognathia N/A N/A No information
Greig Cephalopolysyndactyly Syndrome N/A N/A No information
Short ribs -- craniosynostosis -- polysyndactyly N/A N/A No information
Triphalangeal thumb -- polysyndactyly syndrome N/A N/A No information
Fibula aplasia complex -- brachydactyly N/A N/A No information
Polysyndactyly -- cardiac malformation N/A N/A No information
Craniofacial and skeletal defects N/A N/A No information
Heart defect, tongue hamartoma and polysyndactyly N/A N/A No information
Polysyndactyly type Haas N/A N/A No information
Polysyndactyly -- trigonocephaly -- agenesis of corpus callosum N/A N/A No information
Corpus callosum agenesis -- polysyndactyly N/A N/A No information
Phocomelia -- thrombocytopenia -- encephalocele -- urogenital malformation N/A N/A No information
Roberts-SC Phocomelia N/A N/A No information
Phocomelia syndrome N/A N/A No information
Ectrodactyly N/A N/A No information
Frontonasal dysplasia -- phocomelic upper limbs N/A N/A No information
Phocomelia -- contractures -- absent thumb 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 cleft palate syndrome N/A N/A No information
Micrencephaly corpus callosum agenesis N/A N/A No information
Tibial aplasia ectrodactyly 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
Femur bifid with monodactylous ectrodactyly N/A N/A No information
Oculo-cerebro-acral, (Roberts-like)-ectrodactyly N/A N/A No information
Cleft lip -- palate -- ectrodactyly N/A N/A No information
Cleft lip -- palate -- abnormal thumbs -- microcephaly N/A N/A No information
Craniosynostosis -- fibular aplasia N/A N/A No information
Congenital microgastria limb reduction defect N/A N/A No information
Splenogonadal fusion, limb defects, micrognathia 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
Mesodermal defects lower type N/A N/A No information
Microsomia -- hemifacial -- radial defects N/A N/A No information
Radial defect -- Robin sequence N/A N/A No information
Limb reduction defect N/A N/A No information
Limb transversal defect -- cardiac anomaly N/A N/A No information
Eye defects -- arachnodactyly -- cardiopathy N/A N/A No information
Laterality defects dominant N/A N/A No information
Neural tube defect, folate-sensitive N/A N/A No information
Neonatal ovarian cyst N/A N/A No information
Craniosynostosis -- alopecia -- brain defect N/A N/A No information
Immotile cilia syndrome, due to defective radial spokes N/A N/A No information
Midline field defects N/A N/A No information
Pulmonary atresia with ventricular septal defect N/A N/A No information
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss N/A N/A No information
Cardiac and laterality defects N/A N/A No information
Lung herniation -- congenital defect of sternum N/A N/A No information
Aortic arches defect N/A N/A No information
Larynx, congenital partial atresia of N/A N/A No information
Short stature -- pituitary and cerebellar defects -- small sella turcica N/A N/A No information
Upper limb defect eye and ear abnormalities N/A N/A No information
Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly N/A N/A No information
Immune defect due to absence of thymus N/A N/A No information
Umbilical cord ulceration and intestinal atresia N/A N/A No information
Tracheoesophageal fistula without esophageal atresia N/A N/A No information
Duodenal atresia N/A N/A No information
Colonic atresia N/A N/A No information
Asternia N/A N/A No information
Pulmonary atresia -- intact ventricular septum N/A N/A No information
Spondylocostal dysostosis with anal atresia and urogenital anomalies N/A N/A No information
Arhinia-choanal atresia-microphthalmia syndrome N/A N/A No information
Atresia of small intestine N/A N/A No information
Familial intestinal polyatresia syndrome N/A N/A No information
Microtia, meatal atresia and conductive deafness N/A N/A No information
Coronal synostosis, syndactyly and jejunal atresia N/A N/A No information
Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction N/A N/A No information
Duodenal atresia tetralogy of Fallot N/A N/A No information
Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery N/A N/A No information
Congenital absence of the sternocleidomastoid muscle N/A N/A No information
Jejunal atresia with renal adysplasia N/A N/A No information
Choanal atresia -- deafness -- cardiac defects -- dysmorphia N/A N/A No information
Atresia of urethra N/A N/A No information
Solitary maxillary central incisor, short stature, and choanal atresia N/A N/A No information
Esophageal Atresia and/or Tracheoesophageal Fistula N/A N/A No information
Arhinia, choanal atresia, and microphthalmia N/A N/A No information
Jejunal Atresia N/A N/A No information
Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies N/A N/A No information
Ectodermal dysplasia -- ectrodactyly -- macular dystrophy N/A N/A No information
Fibular aplasia -- ectrodactyly N/A N/A No information
Ectrodactyly -- cardiopathy -- dysmorphism N/A N/A No information
Short stature -- monodactylous -- ectrodactyly -- cleft palate N/A N/A No information
Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly N/A N/A No information
Arterial calcification of infancy N/A N/A No information
Dextrocardia N/A N/A No information
Familial porencephaly N/A N/A No information
Holoprosencephaly -- ectrodactyly -- cleft lip/palate N/A N/A No information
Hydrops ectrodactyly syndactyly N/A N/A No information
Ectrodactyly ectrodermal dysplasia N/A N/A No information
Anophthalmia -- hypothalamo-pituitary insufficiency N/A N/A No information
Anophthalmia plus syndrome N/A N/A No information
Anophthalmia with pulmonary hypoplasia N/A N/A No information
Anophthalmia -- short stature -- obesity N/A N/A No information
Anophthalmia -- cleft palate -- micrognathia N/A N/A No information
Anophthalmia -- hypyothalamo-pituitary insufficiency N/A N/A No information
Anophthalmia -- hand and foot defects -- mental retardation N/A N/A No information
Anophthalmia -- microcephaly -- hypogonadism N/A N/A No information
Duplication of urethra N/A N/A No information
Short limbs subluxed knees cleft palate N/A N/A No information
Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies N/A N/A No information
Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism N/A N/A No information
Familial patella aplasia-hypoplasia N/A N/A No information
Hypothyroidism -- dermoid cyst -- cleft palate N/A N/A No information
Growth delay -- mental retardation -- mandibulofacial dysostosis -- microcephaly -- cleft palate N/A N/A No information
Coloboma uveal with cleft lip palate and mental retardation N/A N/A No information
Hypergonadotropic ovarian failure N/A N/A No information
Hypothyroidism -- cleft palate N/A N/A No information
Dextrocardia -- microphthalmia -- cleft palate -- intellectual deficit N/A N/A No information
Craniosynostosis arthrogryposis cleft palate N/A N/A No information
Cleft lower lip cleft lateral canthi chorioretinal N/A N/A No information
Cleft palate -- coloboma -- deafness N/A N/A No information
Laryngeal cleft N/A N/A No information
Malpuech facial clefting syndrome N/A N/A No information
Palant cleft palate syndrome N/A N/A No information
Cleft lip and palate -- malrotation -- cardiopathy N/A N/A No information
Cleft lip palate -- deafness -- sacral lipoma N/A N/A No information
Midline cleft of lower lip N/A N/A No information
Ankyloblepharon filiforme adnatum -- cleft palate N/A N/A No information
Cystic hygroma, lethal -- cleft palate N/A N/A No information
Dysraphism -- cleft lip palate -- limb reduction defects N/A N/A No information
Coloboma, cleft lip/palate and mental retardation syndrome N/A N/A No information
Microbrachycephaly -- ptosis -- cleft lip N/A N/A No information
EEC syndrome without cleft lip/palate N/A N/A No information
Multiple congenital anomalies -- mental retardation -- growth failure and cleft lip/ palate N/A N/A No information
Leg absence -- deformity -- cataract N/A N/A No information
Syngnathia -- cleft palate N/A N/A No information
Clefting -- ectropion -- conical teeth N/A N/A No information
Ectodermic dysplasia -- anhidrotic -- cleft lip N/A N/A No information
Contractures -- ectodermal dysplasia -- cleft lip palate N/A N/A No information
Dysmorphism -- cleft palate -- loose skin N/A N/A No information
Hypopituitarism -- micropenis -- cleft lip palate N/A N/A No information
Meningeal angiomatosis -- cleft hypoplastic left heart N/A N/A No information
Pachygyria, frontotemporal N/A N/A No information
Tibial hemimelia -- cleft lip/palate N/A N/A No information
Microcephaly, corpus callosum dysgenesis and cleft lip-palate N/A N/A No information
Sternal cleft N/A N/A No information
Cleft lip palate pituitary deficiency N/A N/A No information
Cleft upper lip, median -- cutaneous polyps 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
Choanal atresia -- deafness -- cardiac defects -- dysmorphism N/A N/A No information
Ventriculo-arterial discordance, isolated N/A N/A No information
Vascular malposition N/A N/A No information
Corpus callosum agenesis-neuropathy N/A N/A No information
Congenital hypothyroidsim N/A N/A No information
Congenital bilateral absence of vas deferens N/A N/A No information
Ellis-van Creveld syndrome N/A N/A No information
Chondroectodermal dysplasia N/A N/A No information
Complete androgen insensitivity N/A N/A No information
Caudal dysplasia sequence N/A N/A No information
Caudal regression syndrome N/A N/A No information
Holoprosencephaly -- caudal dysgenesis N/A N/A No information
Caudal appendage -- deafness N/A N/A No information
Caudal duplication N/A N/A No information
Facies unusual arthrogryposis advanced skeletal malformations N/A N/A No information
Facial paresis, hereditary, congenital N/A N/A No information
Kaufman oculocerebrofacial syndrome N/A N/A No information
Inborn amino acid metabolism disorder N/A N/A No information
Epidermolytic Hyperkeratosis N/A N/A No information
Craniosynostosis, anal anomalies, and porokeratosis N/A N/A No information
Acromelanosis N/A N/A No information
Acrorenal syndrome N/A N/A No information
Spondylocarpotarsal synostosis N/A N/A No information
Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia N/A N/A No information
MRKH syndrome N/A N/A No information
Diaphanospondylodysostosis N/A N/A No information
Arachnodactyly -- Intellectual Deficit -- Dysmorphism N/A N/A No information
Al Awadi-Raas-Rothschild syndrome N/A N/A No information
Congenital fiber type disproportion N/A N/A No information
Absent corpus callosum -- cataract -- immunodeficiency N/A N/A No information
Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation N/A N/A No information
Achondrogenesis type 1A N/A N/A No information
Achondrogenesis type 2 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
Congenital bilateral aplasia of vas deferens 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 No information
Pyknoachondrogenesis N/A N/A No information
Achondrogenesis, type 3 N/A N/A No information
Achondrogenesis, type 4 N/A N/A No information
Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails N/A N/A No information
Anal sphincter dysplasia N/A N/A No information
Congenital unilateral pulmonary hypoplasia N/A N/A No information
Camptodactyly syndrome, Guadalajara type 1 N/A N/A No information
Cardiac diverticulum N/A N/A No information
Goodman camptodactyly N/A N/A No information
Spondylo camptodactyly syndrome N/A N/A No information
Tel-Hashomer camptodactyly syndrome N/A N/A No information
Syncamptodactyly -- scoliosis N/A N/A No information
Camptodactyly syndrome, Guadalajara type 2 N/A N/A No information
Camptodactyly syndrome, Guadalajara type III N/A N/A No information
Camptodactyly syndrome, Guadalajara type 3 N/A N/A No information
Camptodactyly, tall stature, and hearing loss syndrome N/A N/A No information
Camptodactyly -- taurinuria N/A N/A No information
Camptodactyly -- vertebral fusion N/A N/A No information
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia N/A N/A No information
Coloboma of optic nerve N/A N/A No information
Digestive duplication N/A N/A No information
Congenital nonhemolytic jaundice N/A N/A No information
Aplasia cutis congenita dominant N/A N/A No information
Contractures, congenital, torticollis and malignant hyperthermia N/A N/A No information
Metacarpals 4 and 5 fusion N/A N/A No information
Thrombocytopenia -- cerebellar hypoplasia -- short stature N/A N/A No information
Radius absent -- anogenital anomalies N/A N/A No information
ICF syndrome N/A N/A No information
Craniofaciocardioskeletal syndrome N/A N/A No information
Polymicrogyria -- turricephaly -- hypogenitalism N/A N/A No information
Inborn urea cycle disorder N/A N/A No information
Distichiasis -- heart and vasculature anomalies N/A N/A No information
Muscle phosphoglycerate mutase deficiency 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
Hanhart syndrome type I N/A N/A No information
Coffin-Lowry syndrome N/A N/A No information
Joubert Syndrome N/A N/A No information
Menkes Disease N/A N/A No information
Bicuspid aortic valve N/A N/A No information
Prenatal dwarfism -- elevated growth hormone levels -- mental retardation -- congenital hearing loss 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-like osseous dysplasia -- dwarfism N/A N/A No information
Larsen syndrome N/A N/A No information
Larsen syndrome, recessive type N/A N/A No information
Pterygium syndrome multiple dominant type N/A N/A No information
Pterygium syndrome, antecubital N/A N/A No information
Pterygium colli -- mental retardation -- digital anomalies N/A N/A No information
FG Syndrome N/A N/A No information
Scott Craniodigital Syndrome N/A N/A No information
Filippi Syndrome N/A N/A No information
Fraser Syndrome N/A N/A No information
Shwachman-Diamond Syndrome N/A N/A No information
Pierre Robin Sequence N/A N/A No information
Fountain Syndrome N/A N/A No information
Velopharyngeal insufficiency N/A N/A No information
Cat's cry N/A N/A No information
Jugular lymphatic obstruction sequence N/A N/A No information
Fucosidosis type 1 N/A N/A No information
Brachmann-De Lange Syndrome N/A N/A No information
ABCD syndrome N/A N/A No information
Athyrotic hypothyroidism sequence N/A N/A No information
Multiple pterygium syndrome N/A N/A No information
Aphakia, congenital primary 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
Melnick-Needles syndrome N/A N/A No information
Kabuki syndrome N/A N/A No information
Seckle syndrome N/A N/A No information
German syndrome N/A N/A No information
Diastrophic dysplasia N/A N/A No information
VATER association N/A N/A No information
Multiple pterygium syndrome lethal type N/A N/A No information
Whelan syndrome N/A N/A No information
Miller-Dieker syndrome N/A N/A No information
Cloacal exstrophy N/A N/A No information
Varadi Papp 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
IBIDS syndrome N/A N/A No information
Patella aplasia, coxa vara, tarsal synostosis N/A N/A No information
Congenital torticollis N/A N/A No information
Lymphedema, congenital N/A N/A No information
Acalvaria N/A N/A No information
Aglossia and situs inversus N/A N/A No information
Amastia N/A N/A No information
Congenital megacolon N/A N/A No information
Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies N/A N/A No information
Free sialic Acid storage disease N/A N/A No information
Truncus Arteriosus N/A N/A No information
Persistent Truncus Arteriosus N/A N/A No information
Hepatic fibrosis, congenital N/A N/A No information
Supernumerary teeth and steroid dehydrogenase deficiency N/A N/A No information
Immunodeficiency, gonadal dysgenesis and pulmonary fibrosis N/A N/A No information
Immunodeficiency due to selective anti-polysaccharide antibody deficiency N/A N/A No information
Severe combined immunodeficiency, T- B+ due to JAK3 deficiency N/A N/A No information
Immunodeficiency, combined, severe, due to ZAP70 deficiency N/A N/A No information
Unusual facies, Myelodysplasia and immunodeficiency N/A N/A No information
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism N/A N/A No information
Spondylometaphyseal dysplasia, Sedaghatian type N/A N/A No information
Spondylometaphyseal dysplasia, X-linked N/A N/A No information
VACTERL hydrocephaly N/A N/A No information
Crigler-Najjar syndrome, type 1 N/A N/A No information
Crigler-Najjar syndrome, type 2 N/A N/A No information
Crigler-Najjar Syndrome N/A N/A No information
Stickler's syndrome N/A N/A No information
Stickler Syndrome N/A N/A No information
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
Anotia 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
Osteogenesis imperfecta congenita, microcephaly, and cataracts N/A N/A No information
Francois dyscephalic syndrome N/A N/A No information
Multiple synostosis syndrome N/A N/A No information
Mullerian aplasia N/A N/A No information
Oculocerebral syndrome with hypopigmentation N/A N/A No information
Muscle-eye-brain syndrome N/A N/A No information
Deafness, vitiligo, achalasia N/A N/A No information
Congenital cytomegalovirus N/A N/A No information
Laryngomalacia, dominant congenital N/A N/A No information
Congenital megalo-ureter N/A N/A No information
Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations N/A N/A No information
Craniomicromelic syndrome N/A N/A No information
Digitorenocerebral syndrome N/A N/A No information
Craniofaciocervical osteoglyphic dysplasia N/A N/A No information
Microcephaly -- deafness syndrome N/A N/A No information
Leukonychia totalis N/A N/A No information
Rudd-Klimek syndrome N/A N/A No information
Thymic-Renal-Anal-Lung dysplasia N/A N/A No information
Nova syndrome N/A N/A No information
Scalp -- ear -- nipple syndrome N/A N/A No information
Meckel syndrome type 2 N/A N/A No information
Nephrosis -- deafness -- urinary tract -- digital malformation N/A N/A No information
Microcephaly -- oculo-digito-esophageal-duodenal syndrome (MODED) 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
Popliteal pterygium syndrome, lethal type N/A N/A No information
Pterygium, Popliteal, lethal type N/A N/A No information
Spondylohypoplasia, arthrogryposis and popliteal pterygium N/A N/A No information
Thrombocytopathy -- asplenia -- miosis N/A N/A No information
Arachnodactyly -- mental retardation -- dysmorphism N/A N/A No information
Familial nasal acilia N/A N/A No information
Anonychia -- microcephaly N/A N/A No information
Internal carotid agenesis N/A N/A No information
Congenital bronchobiliary fistula N/A N/A No information
Congenital heart disease, ptosis, hypodontia, craniosynostosis N/A N/A No information
Skeletal dysplasia, San Diego type N/A N/A No information
Tabatznik syndrome N/A N/A No information
Pelvic-shoulder dysplasia N/A N/A No information
Femur-fibula-ulna syndrome N/A N/A No information
Cerebro oculo genital syndrome N/A N/A No information
Tarsal carpal coalition syndrome N/A N/A No information
Gingival fibromatosis -- facial dysmorphism N/A N/A No information
Microcornea -- glaucoma -- absent frontal sinuses N/A N/A No information
Radio-ulnar synostosis type 2 N/A N/A No information
Thrombocytopenia -- Robin sequence N/A N/A No information
Spondylocostal dysostosis, autosomal recessive N/A N/A No information
Colobomatous microphthalmia -- heart disease -- hearing loss N/A N/A No information
Ankyloblepharon filiforme -- imperforate anus N/A N/A No information
Facial dysmorphism -- shawl scrotum -- joint laxity syndrome N/A N/A No information
Glossopalatine ankylosis -- micrognathia -- ear anomalies N/A N/A No information
Thumb deformity, alopecia, pigmentation anomaly N/A N/A No information
Haspeslagh Fryns Muelenaere syndrome N/A N/A No information
Kousseff-Nichols syndrome N/A N/A No information
Pilotto syndrome N/A N/A No information
Aniridia -- renal agenesis -- psychomotor retardation N/A N/A No information
Congenital cystic eye, multiple ocular and intracranial anomalies N/A N/A No information
Dinno-Shearer-Weisskopf syndrome N/A N/A No information
Otoonychoperoneal syndrome N/A N/A No information
Spondylocostal dysplasia dominant N/A N/A No information
Thoracopelvic dysostosis 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
Spondyloepimetaphyseal dysplasia congenita, Iraqi N/A N/A No information
Congenital microvillous atrophy N/A N/A No information
Hemimegalencephaly N/A N/A No information
Meningoencephalocele N/A N/A No information
Short stature -- talipes -- natal teeth N/A N/A No information
Thumb absent -- short stature -- immune deficiency N/A N/A No information
Pachyonychia congenita recessive N/A N/A No information
Pterigium Colli N/A N/A No information
Humerus, trochlea, aplasia of N/A N/A No information
Overgrowth syndrome, type Fryer N/A N/A No information
Partial atrioventricular canal N/A N/A No information
Microcephaly, Amish type 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
Coloboma of optic papilla N/A N/A No information
Coloboma of iris N/A N/A No information
Coloboma of Alar-nasal cartilages with telecanthus N/A N/A No information
Microtia with nasolacrimal duct imperforation and eye coloboma N/A N/A No information
Infantile idiopathic hypercalciuria, congenital myopia, macular coloboma N/A N/A No information
Hypercalciuria macular coloboma N/A N/A No information
Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation N/A N/A No information
Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia N/A N/A No information
Alar cartilages hypoplasia -- coloboma -- telecanthus N/A N/A No information
Nasopalpebral lipoma -- coloboma syndrome N/A N/A No information
Coloboma of macula, type B brachydactyly N/A N/A No information
Trigonocephaly -- ptosis -- coloboma N/A N/A No information
Granulomas, congenital cerebral N/A N/A No information
Lethal congenital contracture syndrome 1 N/A N/A No information
Lethal congenital contracture syndrome 2 N/A N/A No information
Bd syndrome N/A N/A No information
Cerebellum agenesis -- hydrocephaly N/A N/A No information
Congenital amputation N/A N/A No information
ZAP70 deficiency N/A N/A No information
Platyspondylic lethal chondrodysplasia N/A N/A No information
Transposition of great arteries N/A N/A No information
Kidney arteriovenous fistula N/A N/A No information
Unusual facies, skeletal abnormalities, communicating hydrocephalus N/A N/A No information
Encephalopathy, familial, with neuroserpin inclusion bodies N/A N/A No information
Lethal arthrogryposis with anterior horn cell disease (LAAHD) N/A N/A No information
Unusual facies, renal and Mullerian hypoplasia and severe somatic and mental retardation N/A N/A No information
Infundibulopelvic stenosis multicystic kidney N/A N/A No information
Holoprosencephaly, recurrent infections, and monocytosis N/A N/A No information
Long thumb brachydactyly, maxillary hypoplasia, mental retardation and unusual facies N/A N/A No information
Unusual facies, preauricular pits, fifth finger clinodactyly and tetralogy of Fallot N/A N/A No information
Corpus callosum agenesis -- blepharophimosis -- Robin sequence N/A N/A No information
Emphysema, congenital lobar N/A N/A No information
Platyspondylic lethal skeletal dysplasia, Torrance type N/A N/A No information
Exencephaly N/A N/A No information
Acropectoral syndrome N/A N/A No information
Acrodysplasia scoliosis N/A N/A No information
Acromicric dysplasia N/A N/A No information
Acropectorovertebral dysplasia N/A N/A No information
$3C syndrome$ N/A N/A No information
Acromesomelic dysplasia, Maroteaux type N/A N/A No information
Amelo-onycho-hypohidrotic syndrome N/A N/A No information
Alves Castelo dos Santos syndrome N/A N/A No information
Piebaldism N/A N/A No information
Clayton-Smith Donnai syndrome N/A N/A No information
Diphallia N/A N/A No information
Sucrase-isomaltose malabsorption, congenital N/A N/A No information
Sucrase-isomaltase malabsorption, congenital N/A N/A No information
Maxillo-nasal dysostosis N/A N/A No information
Shprintzen-Golberg craniosynostosis N/A N/A No information
Shprintzen-Goldberg syndrome N/A N/A No information
Opitz syndrome , X-linked N/A N/A No information
Microcephaly brachydactyly kyphoscoliosis N/A N/A No information
Short stature webbed neck heart disease N/A N/A No information
Tetramelic deficiencies -- Ectodermal dysplasia -- deformed ears -- other abnormalities N/A N/A No information
Ulna hypoplasia with mental retardation N/A N/A No information
Blepharophimosis ptosis esotropia syndactyly short N/A N/A No information
Fibular hypoplasia or aplasia -- femoral bowing -- oligodactyly N/A N/A No information
Fuhrmann-Rieger-de Sousa syndrome N/A N/A No information
Hydrocephalus -- growth delay -- skeletal anomalies N/A N/A No information
Corpus callosum dysgenesis hypopituitarism N/A N/A No information
Rieger anomaly -- partial lipodystrophy N/A N/A No information
SHORT Syndrome N/A N/A No information
Theodor-Hertz-Goodman syndrome N/A N/A No information
Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome N/A N/A No information
Congenital arteriovenous shunt N/A N/A No information
Cardiac malformation N/A N/A No information
Agyria-pachygyria type 1 N/A N/A No information
Congenital aneurysms of the great vessels N/A N/A No information
Armendares syndrome N/A N/A No information
Limb-mammary syndrome N/A N/A No information
Hypomyelination -- congenital cataract N/A N/A No information
Nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia and severe mental retardation N/A N/A No information
Robin sequence oligodactyly N/A N/A No information
Clavicle, pseudoarthrosis of, congenital N/A N/A No information
Congenital craniosynostosis maternal hyperthyroiditis N/A N/A No information
Hunter-MacDonald syndrome N/A N/A No information
Female pseudohermaphrodism -- anorectal anomalies N/A N/A No information
Female pseudohermaphrodism N/A N/A No information
Chondrodysplasia punctata lethal neonatal N/A N/A No information
Multiple pterygium syndrome, autosomal recessive N/A N/A No information
Facio-cardio-musculo-skeletal syndrome N/A N/A No information
Oto-facio-osseous-gonadal syndrome N/A N/A No information
Oligodontia and congenital sensorineural hearing loss N/A N/A No information
Dauwerse-Peters syndrome N/A N/A No information
Growth retardation mental retardation phalangeal hypoplasia N/A N/A No information
Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency N/A N/A No information
Hypotonia -- failure to thrive -- microcephaly N/A N/A No information
Growth delay due to insulin-like growth factor I deficiency N/A N/A No information
Multiple endocrine abnormalities -- adenylyl cyclase dysfunction N/A N/A No information
Female sex reversal with dysgenesis of kidneys, adrenals and lungs N/A N/A No information
Macrocephaly, facial abnormalities, disproportionate tall stature and mental retardation N/A N/A No information
Agenesis of salivary glands and lacrimal glands N/A N/A No information
Abeshouse's triad N/A N/A No information
Melanosis diffusa congenita N/A N/A No information
Krieble Bixler syndrome N/A N/A No information
Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation N/A N/A No information
Midline craniofacial anomalies and morning glory disc anomaly N/A N/A No information
Eccentrochondrodysplasia N/A N/A No information
Mesomelic dysplasia, Camera type N/A N/A No information
Microcephalic osteodysplastic dysplasia, Saul-Wilson type N/A N/A No information
Rhombencephalosynapsis N/A N/A No information
Mesomelia radial hypoplasia bifid thumb unusual facies N/A N/A No information
Mungan syndrome N/A N/A No information
Weaver like syndrome N/A N/A No information
Iridogoniodysgenesis and skeletal anomalies N/A N/A No information
Heckenlively syndrome N/A N/A No information
Tracheal stenosis syndrome N/A N/A No information
Hemangioma thrombocytopenia syndrome N/A N/A No information
Foramina parietalia permagna N/A N/A No information
Brachydactyly, mesomelia, mental retardation, aortic dilation, mitral valve prolapse and characteristic face N/A N/A No information
Craniorachischisis N/A N/A No information
Houlston ironton temple syndrome de N/A N/A No information
Rokitansky-Kuster-Hauser syndrome N/A N/A No information
Rokitansky sequence N/A N/A No information
Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2) N/A N/A No information
Koussef nichols syndrome N/A N/A No information
Congenital sucrose-isomaltose malabsorption N/A N/A No information
Ectodermal dysplasia, hypohidrotic, autosomal dominant N/A N/A No information
Ear, patella, short stature syndrome N/A N/A No information
Stevenson-Carey syndrome N/A N/A No information
Toe syndactyly, telecanthus, and anogenital and renal malformations N/A N/A No information
Lymphoedema -- cerebral arteriovenous anomaly N/A N/A No information
Lumbar malsegmentation, short stature and facial anomalies N/A N/A No information
Lethal congenital contracture syndrome (LCCS) N/A N/A No information
Unusual facies, hypotonia, mental retardation and radioulnar synostosis N/A N/A No information
Anton-Vogt syndrome N/A N/A No information
Double nails on the fifth toe N/A N/A No information
Bruck syndrome 1 N/A N/A No information
Bruck syndrome, 2 N/A N/A No information
Craniofacial -- deafness -- hand syndrome N/A N/A No information
Radio digito -- facial dysplasia N/A N/A No information
Arrhinia 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
Shy-Drager Syndrome N/A N/A No information
Sturge-Weber Syndrome N/A N/A No information
Williams Syndrome N/A N/A No information
Tracheal agenesis syndrome N/A N/A No information
Clubfoot approx 1 in 68,000 or 0.00% or 4,000 people in USA 4,000 about 1 per 1,000 births2.
Congenital bronchogenic cyst N/A N/A No information
Infantile hypophosphatasia N/A N/A No information
Apert syndrome N/A N/A No information
Lesch-Nyhan syndrome N/A N/A No information
Intersex conditions N/A N/A No information
Patent foramen ovale N/A N/A No information
Gilbert's Syndrome N/A N/A No information
Neu-Laxova Syndrome N/A N/A No information
Ivemark Syndrome N/A N/A No information
Walker-Warburg Syndrome N/A N/A No information
Oculo-osteo-cutaneous syndrome N/A N/A No information
Oculo-oto-facial dysplasia N/A N/A No information
Osteopaenia -- myopia -- hearing loss -- intellectual deficit -- facial dysmorphism N/A N/A No information
Renal dysplasia hepatic fibrosis dandy walker N/A N/A No information
Retinitis pigmentosa deafness hypogenitalism N/A N/A No information
Isthmus coarctation N/A N/A No information
Tetrahydrobiopterin deficiencies N/A N/A No information
Progeroid syndrome, neonatal N/A N/A No information
Congenital Bilateral Perisylvian Syndrome N/A N/A No information
Nail-Patella Syndrome N/A N/A No information
Kuf Disease N/A N/A No information
Nance-Horan Syndrome N/A N/A No information
Bowen-Conradi Syndrome N/A N/A No information
Tetrahydrobiopterin Deficiency N/A N/A No information
Alpha 1-Antitrypsin Deficiency N/A N/A No information
Blue Diaper Syndrome N/A N/A No information
Marden-Walker Syndrome N/A N/A No information
Cor Triatriatum N/A N/A No information
Pentalogy of Cantrell N/A N/A No information
Brugada Syndrome N/A N/A No information
Weaver Syndrome N/A N/A No information
Smith-Magenis 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
Simpson Dysmorphia Syndrome N/A N/A No information
Townes-Brocks Syndrome N/A N/A No information
Brailsford N/A N/A No information
Brachymesophalangy 2 and 5 N/A N/A No information
Brachymesomelia-renal syndrome N/A N/A No information
Cerebrorenodigital syndrome N/A N/A No information
Bentham-Driessen-Hanveld syndrome 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
Cutis Marmorata Telangiectatica Congenita N/A N/A No information
McGrath Syndrome N/A N/A No information
Cat Eye Syndrome N/A N/A No information
Situs Inversus N/A N/A No information
Jervell and Lange-Nielsen Syndrome N/A N/A No information
Ruvalcaba-Myhre-Smith Syndrome N/A N/A No information
MURCS Association N/A N/A No information
Aase syndrome 2 N/A N/A No information
Acardia 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
Mulibrey Nanism syndrome N/A N/A No information
Zimmerman-Laband syndrome 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
Treacher-Collins Syndrome N/A N/A No information
Nezelof Syndrome N/A N/A No information
Hallermann-Streiff Syndrome N/A N/A No information
Anorectal Malformations N/A N/A No information
Acrocallosal Syndrome (Schinzel Type) N/A N/A No information
Bloom Syndrome N/A N/A No information
Baller-Gerold Syndrome N/A N/A No information
Aase Syndrome N/A N/A No information
Pallister-Killian Syndrome N/A N/A No information
Dubowitz Syndrome N/A N/A No information
Cardiofaciocutaneous 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
Nager Syndrome N/A N/A No information
MULIBREY Nanism N/A N/A No information
Gorlin-Chaudhry-Moss Syndrome N/A N/A No information
Gastroschisis N/A N/A No information
Pallister-Hall 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
Laurence-Moon 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
Schinzel Syndrome N/A N/A No information
Roberts Pseudothalidomide Syndrome N/A N/A No information
C-like syndrome 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
Acrosphenosyndactylia N/A N/A No information
Mullerian Aplasia -- Renal Aplasia -- Cervicothoracic Somite Dysplasia N/A N/A No information
Kunze riehm syndrome N/A N/A No information
Michelin Tire Baby Syndrome N/A N/A No information
Michelin tyre baby syndrome N/A N/A No information
Jequier-Kozlowski-skeletal dysplasia N/A N/A No information
Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski N/A N/A No information
Chondrodysplasia, acromesomelic, with genital anomalies N/A N/A No information
Lethal chondrodysplasia, Seller type N/A N/A No information
Hypertrichotic osteochondrodysplasia N/A N/A No information
Chondrodysplasia, Grebe type N/A N/A No information
Jansen type metaphyseal chondrodysplasia N/A N/A No information
Aniridia -- ptosis -- mental retardation -- obesity, familial N/A N/A No information
Acromegaloid facies -- hypertrichosis N/A N/A No information
Franceschetti-Klein syndrome N/A N/A No information
Kennerknecht syndrome N/A N/A No information
Finlay-Markes syndrome N/A N/A No information
Leukomelanoderma -- Infantalism -- Mental Retardation -- Hypodontia -- Hypotrichosis N/A N/A No information
Eyebrow Duplication -- Stretchable Skin -- Syndactyly N/A N/A No information
Cantu syndrome N/A N/A No information
Brachio-Skeletal-Genital Syndrome N/A N/A No information
Hing Torack Dowston syndrome N/A N/A No information
Aniridia ataxia renal agenesis psychomotor retardation N/A N/A No information
Braddock Jones Superneau syndrome N/A N/A No information
Cantu Sanchez-Corona Garcia-cruz syndrome N/A N/A No information
Stuve-Wiedemann syndrome N/A N/A No information
Stuve-Wiedemann dysplasia N/A N/A No information
Moebius sequence N/A N/A No information
Moebius syndrome 1 N/A N/A No information
Cornel syndrome N/A N/A No information
Koroxenidis Syndrome N/A N/A No information
Camera Costa Syndrome N/A N/A No information
Moebius Syndrome N/A N/A No information
Cranio-facio-digito-genital syndrome N/A N/A No information
Stoll Levy Francort Syndrome N/A N/A No information
Freire-Maia syndrome N/A N/A No information
BBB syndrome, X-linked N/A N/A No information
Kozlowski Celermajer Tink syndrome N/A N/A No information
Ptosis strabismus diastasis N/A N/A No information
Axenfeld-Rieger syndrome N/A N/A No information
Edwards-Gale Syndrome N/A N/A No information
Brosnan Syndrome N/A N/A No information
Acrocallosal syndrome N/A N/A No information
Borjeson Syndrome N/A N/A No information
Norrie syndrome N/A N/A No information
Intellectual deficit -- multiple anomalies N/A N/A No information
Saguenay-Lac Saint Jean -- COX deficiency N/A N/A No information
Hip dysplasia -- enchondromata -- ecchondromata N/A N/A No information
Leucinosis N/A N/A No information
Human HOXA1 Syndromes N/A N/A No information
Dextrocardia with situs inversus N/A N/A No information
Cerebro-oculo-nasal syndrome N/A N/A No information
Devriendt syndrome N/A N/A No information
Dunnigan syndrome N/A N/A No information
Goldberg syndrome N/A N/A No information
Goldenhar disease N/A N/A No information
Gollop Coates syndrome N/A N/A No information
Goossens-Devriendt syndrome N/A N/A No information
Grange syndrome N/A N/A No information
Haas-Robinson syndrome N/A N/A No information
Kumar levick syndrome N/A N/A No information
Levocardia N/A N/A No information
Maghazaji syndrome N/A N/A No information
Megarbane-Loiselet syndrome N/A N/A No information
Mesomelic dysplasia, Savarirayan type N/A N/A No information
Morava-Mehes syndrome N/A N/A No information
Naguib syndrome N/A N/A No information
Quattrin mcpherson syndrome N/A N/A No information
Schwartz newark syndrome N/A N/A No information
Rietti-Greppi-Micheli syndrome N/A N/A No information
Sandrow syndrome N/A N/A No information
Schroder syndrome N/A N/A No information
Turner-mongolism polysyndrome N/A N/A No information
Turpin syndrome N/A N/A No information
Wiedemann-Tolksdorf syndrome 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
Acrofacial dysostosis postaxial, atypical N/A N/A No information
Craniosynostosis Maroteaux Fonfria type N/A N/A No information
Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis N/A N/A No information
IMAGe syndrome N/A N/A No information
Bruck syndrome N/A N/A No information
Odonto-tricho-ungual-digito-palmarn syndrome N/A N/A No information
Fryns-Aftimos syndrome N/A N/A No information
Verloes-Deprez syndrome N/A N/A No information
Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency N/A N/A No information
Volubilis, syndrome du N/A N/A No information
XLAG syndrome N/A N/A No information
Whistling face syndrome, recessive form N/A N/A No information
Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities N/A N/A No information
Baker-Winegrad disease N/A N/A No information
Baraitser burn fixen syndrome N/A N/A No information
Baraitser-Winter syndrome N/A N/A No information
BEEC N/A N/A No information
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex N/A N/A No information
Boichis syndrome N/A N/A No information
BOR syndrome N/A N/A No information
Harper dwarfism N/A N/A No information
Havlikova syndrome N/A N/A No information
Hunter-Fraser syndrome N/A N/A No information
Iso-Kikuchi syndrome N/A N/A No information
Ives-Houston syndrome N/A N/A No information
Jirasek-Zuelzer-Wilson syndrome N/A N/A No information
Keutel syndrome 2 N/A N/A No information
Krause syndrome N/A N/A No information
Kurz syndrome N/A N/A No information
Latham-Munro syndrome N/A N/A No information
Macrodactyly -- Hemihypertrophy -- Connective tissue nevi syndrome N/A N/A No information
Moynahan syndrome I N/A N/A No information
Moynahan syndrome III N/A N/A No information
Phillips-Griffiths syndrome N/A N/A No information
Cardiomelic syndrome Stratton Koehler type N/A N/A No information
Heterotaxy with polysplenia or asplenia N/A N/A No information
Viscero-atrial heterotaxia N/A N/A No information
Exstrophy of the bladder N/A N/A No information
Hydrocephalus -- growth retardation -- skeletal anomalies N/A N/A No information
Ruzicka-Goerz-Anton syndrome N/A N/A No information
Richieri-Costa-Orquizas syndrome N/A N/A No information
Ectodermal dysplasia, Margarita type N/A N/A No information
Billet-Bear syndrome N/A N/A No information
Charlie M syndrome N/A N/A No information
Hardikar syndrome N/A N/A No information
Distal arthrogryposis, Moore-Weaver type N/A N/A No information
Alsing syndrome N/A N/A No information
Barnicoat-Baraitser syndrome N/A N/A No information
Annular constricting bands N/A N/A No information
Bamforth syndrome N/A N/A No information
Cleidorhizomelic syndrome N/A N/A No information
Finnish lethal neonatal metabolic syndrome N/A N/A No information
Cortes-Lacassie syndrome N/A N/A No information
Renoanogenital syndrome N/A N/A No information
Crawfurd syndrome N/A N/A No information
Lockwood-Feingold syndrome N/A N/A No information
Horn-Kolb syndrome N/A N/A No information
Hunter-Mcdonald syndrome N/A N/A No information
Ho Kaufman-Mcalister syndrome N/A N/A No information
Acrofacial dysostosis -- ambiguous genitalia N/A N/A No information
Acrorenal syndrome recessive N/A N/A No information
Bowing, congenital, short bones N/A N/A No information
Blomstrand syndrome N/A N/A No information
Dysostosis acral with facial and genital abnormalities N/A N/A No information
Langer-Nishino-Yamaguchi syndrome N/A N/A No information
Congenital hypotrichosis milia N/A N/A No information
Blethen-Wenick-Hawkins syndrome N/A N/A No information
Left ventricle-aorta tunnel N/A N/A No information
Double cortex syndrome N/A N/A No information
Christian-Demyer-Franken syndrome N/A N/A No information
Hypoplastic thumb -- mullerian aplasia N/A N/A No information
Bindewald-Ulmer-Muller syndrome N/A N/A No information
Auriculo-condylar syndrome N/A N/A No information
Coffin syndrome 1 N/A N/A No information
Kantaputra-Gorlin syndrome N/A N/A No information
Johnson-Hall-Krous syndrome N/A N/A No information
Burnett-Schwartz-Berberian syndrome N/A N/A No information
Jones-Hersh-Yusk syndrome N/A N/A No information
Akaba-Hayasaka syndrome N/A N/A No information
Hordnes-Engebretsen-Knudtson syndrome N/A N/A No information
Cortada-Kousseff-Matsumoto syndrome N/A N/A No information
Christian's syndrome 1 N/A N/A No information
Frints -- De Smet -- Fabry -- Fryns syndrome N/A N/A No information
Cor biloculare N/A N/A No information
Die-Smulders-Vles-Fryns syndrome N/A N/A No information
Anti-plasmin deficiency, congenital N/A N/A No information
Kalam-Hafeez syndrome N/A N/A No information
Calabro syndrome N/A N/A No information
Iida-Kannari syndrome N/A N/A No information
Idaho syndrome N/A N/A No information
Korula-Wilson-Salomonson syndrome N/A N/A No information
Genoa syndrome N/A N/A No information
Calloso-genital dysplasia N/A N/A No information
Campomelia Cumming type N/A N/A No information
Biliary hypoplasia N/A N/A No information
Camera-Marugo-Cohen syndrome N/A N/A No information
Pulmonary venous return anomaly N/A N/A No information
Bowing of long bones congenital N/A N/A No information
Hutterite cerebroosteonephrodysplasia syndrome N/A N/A No information
Acral dysostosis -- dyserythropoiesis N/A N/A No information
Arroyo -- Garcia -- Cimadevilla syndrome N/A N/A No information
Franceschini-Vardeu-Guala syndrome N/A N/A No information
Baby rattle pelvic dysplasia N/A N/A No information
Emanuel syndrome N/A N/A No information
Landy-Donnai syndrome N/A N/A No information
Hypoplasia hepatic ductular N/A N/A No information
Congenital articular rigidity N/A N/A No information
Boscherini-Galasso-Manca-Bitti syndrome N/A N/A No information
Brachioskeletogenital syndrome N/A N/A No information
Hypomelia -- mullerian duct anomalies N/A N/A No information
Chitayat-Moore-Del Bigio syndrome N/A N/A No information
Cretinism athyreotic N/A N/A No information
Alpha-mannosidosis type II N/A N/A No information
Exstrophy of the bladder -- epispadias N/A N/A No information
Ghose-Sachdev-Kumar syndrome N/A N/A No information
Becker nevus syndrome N/A N/A No information
Fraser-Jequier-Chen syndrome N/A N/A No information
Frontofacionasal dysplasia type Al gazali N/A N/A No information
Poncet-Spiegler's cylindroma N/A N/A No information
Cousin Walbraum Cegarra syndrome N/A N/A No information
Bone dysplasia, lethal, Holmgren type N/A N/A No information
Infundibulopelvic dysgenesis 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
Hurst-Hallam-Hockey syndrome N/A N/A No information
Alpha-mannosidosis, adult-onset form N/A N/A No information
Interferon gamma, receptor 1, deficiency N/A N/A No information
Cerebrorenodigital syndrome with limb malformations and triradiate acetabula N/A N/A No information
Cardioauditory syndrome of Sanchez- Cascos N/A N/A No information
Gupta-Patton syndrome N/A N/A No information
Kozlowski-Celermajer syndrome N/A N/A No information
Koone-Rizzo-Elias syndrome N/A N/A No information
Laurence-Prosser-Rocker syndrome N/A N/A No information
Frontonasal malformation -- cloacal exstrophy N/A N/A No information
Hypertelorism and tetralogy of Fallot N/A N/A No information
Kotzot-Richter syndrome N/A N/A No information
Kozlowski-Rafinski-Klicharska syndrome N/A N/A No information
Johnson-Munson syndrome N/A N/A No information
Amastia, bilateral, with ureteral triplication and dysmorphism N/A N/A No information
Athelia N/A N/A No information
Celiac artery stenosis from compression by median arcuate ligament of diaphragm N/A N/A No information
Bland-Garland-White syndrome N/A N/A No information
Brushfield-Wyatt syndrome N/A N/A No information
Alajouanine syndrome N/A N/A No information
Ashley syndrome N/A N/A No information
Atkin-Flatiz syndrome N/A N/A No information
Berndorfer syndrome N/A N/A No information
Bland-White -Garland syndrome N/A N/A No information
Blueberry muffin syndrome N/A N/A No information
Bosviel syndrome N/A N/A No information
Boyd-Stearns syndrome N/A N/A No information
Braun-Bayer syndrome N/A N/A No information
Cervenka's syndrome N/A N/A No information
Chapple syndrome N/A N/A No information
Fanconi-Albertini-Zellweger syndrome N/A N/A No information
Giacomini disease N/A N/A No information
Golden-Lakin syndrome N/A N/A No information
Gorlin-Sedano syndrome N/A N/A No information
Myhre-Ruvalcaba-Kelley syndrome N/A N/A No information
Milner-Khallouf-Gibson syndrome N/A N/A No information
Maroteaux-Fonfria syndrome N/A N/A No information
Hypomandibular faciocranial dysostosis N/A N/A No information
Hydrocephalus due to congenital stenosis of aqueduct of sylvius N/A N/A No information
Richieri-Costa-Silveira-Pereira syndrome N/A N/A No information
Omodysplasia -- dominant type N/A N/A No information
Orstavik-Lindemann-Solberg syndrome 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
Humerospinal dysostosis -- congenital heart disease N/A N/A No information
Short stature -- dysmorphic face -- pelvic scapula dysplasia 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
Saal-Bulas syndrome N/A N/A No information
Michels-Caskey syndrome N/A N/A No information
Schwartz, Cohen-Addad, Lambert syndrome N/A N/A No information
Scholte syndrome N/A N/A No information
Pseudohermaphrodism -- anorectal anomalies N/A N/A No information
Say syndrome N/A N/A No information
Mesomelic dysplasia -- skin dimples N/A N/A No information
Samson-Gardner syndrome N/A N/A No information
Muller-Barth-Menger syndrome N/A N/A No information
Pointer syndrome N/A N/A No information
Temtamy syndrome N/A N/A No information
Hoyeraal-Hreidarsson syndrome N/A N/A No information
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch N/A N/A No information
Allanson-Pantzar-McLeod syndrome N/A N/A No information
Marphanoid syndrome, type De Silva N/A N/A No information
Pfeiffer-Tietze-Welte syndrome N/A N/A No information
Passos-Bueno syndrome N/A N/A No information
Howard-Young syndrome N/A N/A No information
Myasthenic syndrome, congenital, slow-channel N/A N/A No information
Reynolds-Neri-Hermann syndrome N/A N/A No information
Multiple synostoses syndrome 2 N/A N/A No information
Posterior valve, urethra N/A N/A No information
Stocco dos Santos syndrome N/A N/A No information
Diastematomyelia N/A N/A No information
Rasmussen-Johnsen-Thomsen syndrome N/A N/A No information
Melhem-Fahl syndrome N/A N/A No information
Nakajo syndrome N/A N/A No information
Harrod Doman Keele syndrome N/A N/A No information
Oculofaciocardiodental syndrome N/A N/A No information
Spondylocostal dysostosis, Dandy-Walker N/A N/A No information
Plasminogen activitor inhibitor type 1 deficiency, congenital N/A N/A No information
Froster-Iskenius-Waterson syndrome N/A N/A No information
Pseudopapilledema -- blepharophimosis -- hand anomalies N/A N/A No information
Radio renal syndrome N/A N/A No information
Massa-Casaer-Ceulemans syndrome N/A N/A No information
Schisis association N/A N/A No information
Lateral body wall complex N/A N/A No information
Aphalangia -- syndactyly -- microcephaly N/A N/A No information
Robin sequence and oligodactyly N/A N/A No information
Sonoda syndrome N/A N/A No information
Say-Field-Coldwell syndrome N/A N/A No information
Auralcephalosyndactyly N/A N/A No information
Furlong-Kurczynski-Hennessy syndrome N/A N/A No information
Chitty-Hall-Webb syndrome N/A N/A No information
MOMO syndrome N/A N/A No information
Thomas syndrome N/A N/A No information
Fuhrmann syndrome N/A N/A No information
Gollop syndrome N/A N/A No information
Gay-Feinmesser-Cohen syndrome N/A N/A No information
Fontaine-Farriaux-Blanckaert syndrome N/A N/A No information
Rhizomelic syndrome N/A N/A No information
Impossible syndrome N/A N/A No information
Craniodigital syndrome -- mental retardation N/A N/A No information
Tetraamelia -- multiple malformations N/A N/A No information
Goldblatt-Viljoen syndrome N/A N/A No information
Diphallus -- rachischisis -- imperforate anus N/A N/A No information
Hyperphalangism -- dysmorphy -- bronchomalacia N/A N/A No information
Axial mesodermal dysplasia spectrum N/A N/A No information
Short limb dwarf lethal, Mcalister Crane type N/A N/A No information
Talipes equinovarus N/A N/A No information
Czeizel-Losonci syndrome N/A N/A No information
Costocoracoid ligament, congenitally short N/A N/A No information
Manouvrier syndrome N/A N/A No information
Shoulder and thorax deformity, congenital heart disease N/A N/A No information
Symphalangism with multiple anomalies of hands and feet N/A N/A No information
Trueb-Burg-Bottani syndrome N/A N/A No information
Thanatophoric dysplasia, Glasgow variant N/A N/A No information
Facioskeletalgenital syndrome, Rippberger type N/A N/A No information
Oculomaxillofacial dysostosis N/A N/A No information
Santos-Mateus-Leal syndrome N/A N/A No information
Sclerocornea, Syndactyly, ambiguous genitalia N/A N/A No information
Imaizumi Kuroki syndrome N/A N/A No information
Lurie-Kletsky syndrome N/A N/A No information
Ectodermal dysplasia/ skin fragility syndrome N/A N/A No information
Petty-Laxova-Wiedemann syndrome N/A N/A No information
Pulmonary hypoplasia familial primary N/A N/A No information
Fuqua-Berkovitz syndrome N/A N/A No information
Dennis-Fairhurst-Moore syndrome N/A N/A No information
Mullerian derivatives, persistent N/A N/A No information
Penoscrotal transposition N/A N/A No information
Tetraamelia with pulmonary hypoplasia N/A N/A No information
Stratton-Parker syndrome N/A N/A No information
Temtamy preaxial brachydactyly syndrome N/A N/A No information
Faciocardiomelic dysplasia, lethal N/A N/A No information
Ectodermal dysplasia mental retardation syndactyly N/A N/A No information
Saito-Kuba-Tsuruta syndrome N/A N/A No information
Pulmonary sequestration N/A N/A No information
Cormier Rustin Munnich syndrome N/A N/A No information
Tollner-Horst-Manzke syndrome N/A N/A No information
Thoracic celosomia N/A N/A No information
Ausems Wittebol-Post Hennekam syndrome N/A N/A No information
Lactate dehydrogenase deficiency type B N/A N/A No information
Paris-Trousseau thrombocytopenia N/A N/A No information
Karandikar-Maria-Kamble syndrome N/A N/A No information
Kozlowski-Brown-Hardwick syndrome N/A N/A No information
Ray-Peterson-Scott syndrome N/A N/A No information
Buntinx-Lormans-Martin syndrome N/A N/A No information
Plasminogen deficiency, congenital N/A N/A No information
Hemihypertrophy -- intestinal web -- corneal opacity N/A N/A No information
Metaphyseal dysplasia -- maxillary hypoplasia -- brachydactyly N/A N/A No information
Selig-Benacerraf-Greene syndrome N/A N/A No information
Singh-Chhaparwal-Dhanda syndrome N/A N/A No information
COACH syndrome N/A N/A No information
Herrmann-Opitz craniosynostosi N/A N/A No information
Steroid dehydrogenase deficiency -- dental anomalies N/A N/A No information
Patterson-Stevenson syndrome N/A N/A No information
Halal syndrome N/A N/A No information
Trigonocephaly -- bifid nose -- acral anomalies N/A N/A No information
FACES syndrome N/A N/A No information
Arena syndrome N/A N/A No information
Jeune syndrome -- situs inversus N/A N/A No information
Arima syndrome N/A N/A No information
ECP syndrome N/A N/A No information
Dionisi-Vici-Sabetta-Gambarara syndrome N/A N/A No information
D ercole syndrome N/A N/A No information
Fara-Chlupackova syndrome N/A N/A No information
Ectopia lentis, isolated N/A N/A No information
Daneman Davy Mancer syndrome N/A N/A No information
Ischiopatellar dysplasia N/A N/A No information
Raine syndrome N/A N/A No information
SCARF syndrome N/A N/A No information
Fried-Goldberg-Mundel syndrome N/A N/A No information
Mental retardation -- hip luxation -- G6PD variant N/A N/A No information
Faciothoracogenital syndrome N/A N/A No information
Powell-Chandra-Saal syndrome N/A N/A No information
Short stature -- prognathism -- short femoral necks N/A N/A No information
Tetraploidy N/A N/A No information
Epiphyseal stippling syndrome -- osteoclastic hyperplasia N/A N/A No information
Oculo cerebro acral syndrome N/A N/A No information
Frias syndrome N/A N/A No information
Peptidic growth factors deficiency N/A N/A No information
Thakker-Donnai syndrome N/A N/A No information
Steinfeld syndrome N/A N/A No information
Fukuda-Miyanomae-Nakata syndrome N/A N/A No information
Frasier syndrome N/A N/A No information
Richieri Costa Guion-Almeida syndrome N/A N/A No information
Schlegelberger-Grote syndrome N/A N/A No information
Pulmonary supravalvular stenosis N/A N/A No information
Sacrococcygeal dysgenesis association N/A N/A No information
Familial opposable triphalangeal thumbs duplication N/A N/A No information
Double uterus-hemivagina-renal agenesis N/A N/A No information
Aplasia cutis congenita of limbs recessive N/A N/A No information
Oslam syndrome N/A N/A No information
Oto-Palatal-digital syndrome N/A N/A No information
Palmer-Pagon syndrome N/A N/A No information
TAU syndrome N/A N/A No information
Complete atrioventricular canal N/A N/A No information
Irons-Bhan syndrome N/A N/A No information
McDonough syndrome N/A N/A No information
Seghers syndrome N/A N/A No information
Vertebral fusion- posterior lumbrosacral, blepharoptosis N/A N/A No information
Mickleson syndrome N/A N/A No information
Novak syndrome N/A N/A No information
Trigonocephaly -- broad thumbs N/A N/A No information
Opthalmo acromelic syndrome N/A N/A No information
Astley-Kendall syndrome N/A N/A No information
Kasznica-Carlson-Coppedge syndrome N/A N/A No information
Czeizel syndrome N/A N/A No information
Aughton syndrome N/A N/A No information
Tukel syndrome N/A N/A No information
Reardon-Hall-Slaney syndrome N/A N/A No information
Sackey-Sakati-Aur syndrome N/A N/A No information
Fernhoff-Blackston-Oakley syndrome N/A N/A No information
Edinburgh malformation syndrome N/A N/A No information
McGillivray syndrome N/A N/A No information
Spondyloepimetaphyseal dysplasia with hypotrichosis N/A N/A No information
Goldblatt-Wallis syndrome N/A N/A No information
Freire-Maia odontotrichomelic syndrome N/A N/A No information
Kennerknecht-Vogel syndrome N/A N/A No information
Lathosterolosis N/A N/A No information
Smith-Martin-Dodd syndrome N/A N/A No information
Faciodigitogenital syndrome, recessive form N/A N/A No information
Pierson syndrome N/A N/A No information
Culler-Jones syndrome N/A N/A No information
Dincsoy-Salih-Patel syndrome N/A N/A No information
Sanderson-Fraser syndrome N/A N/A No information
Sommer-Hines syndrome N/A N/A No information
Teebi-Shaltout syndrome N/A N/A No information
Tsukuhara syndrome N/A N/A No information
Engelhard-Yatziv syndrome N/A N/A No information
MacDermot-Winter syndrome N/A N/A No information
Kennerknecht-Sorgo-Oberhoffer syndrome N/A N/A No information
Timothy syndrome N/A N/A No information
Garret-Tripp syndrome N/A N/A No information
Samson-Viljoen syndrome N/A N/A No information
Fitzsimmons-McLachlan-Gilbert syndrome N/A N/A No information
Ellis-Yale-Winter syndrome N/A N/A No information
Gardner-Morrisson-Abbot syndrome N/A N/A No information
Jorgenson-Lenz syndrome N/A N/A No information
Fryns-Hofkens-Fabry syndrome N/A N/A No information
Rhabdomyomatous dysplasia -- cardiopathy -- genital anomalies N/A N/A No information
Okamuto Satomura syndrome N/A N/A No information
Renal-genital-middle ear anomalies N/A N/A No information
Kosztolanyi syndrome N/A N/A No information
Grix-Blankenship-Peterson syndrome N/A N/A No information
Colavita-Kozlowski syndrome N/A N/A No information
Semmerkrot-Haraldsson-Weenaes syndrome N/A N/A No information
Stoll-Levy-Fancfort syndrome N/A N/A No information
Schmitt-Gillenwater-Kelly syndrome N/A N/A No information
Spranger-Schinzel-Myers syndrome N/A N/A No information
Char syndrome N/A N/A No information
Houlston-Ironton-Temple syndrome N/A N/A No information
Simosa craniofacial syndrome N/A N/A No information
Omodysplasia N/A N/A No information
Sandhaus Ben-Ami syndrome N/A N/A No information
Myhre-Ruvalcaba-Graham syndrome N/A N/A No information
Hoon-Hall syndrome N/A N/A No information
Holoacardius amorphus 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
Podder-Tolmie syndrome N/A N/A No information
Hunter-Carpenter-Macdonald syndrome N/A N/A No information
Hunter-McAlpine syndrome N/A N/A No information
Congenital partial lipodystrophy N/A N/A No information
Simell-Takki syndrome N/A N/A No information
Illum syndrome N/A N/A No information
Cushing's symphalangism N/A N/A No information
Taussig Bing syndrome N/A N/A No information
Lanzietri syndrome N/A N/A No information
Arakawa syndrome 1 N/A N/A No information
Holzgreve-Wagner-Rehder syndrome N/A N/A No information
Lowry syndrome N/A N/A No information
Rolland-Desbuquois syndrome N/A N/A No information
Goldberg-Shprintzen megacolon syndrome N/A N/A No information
Kapur-Toriello syndrome N/A N/A No information
Multiple synostoses syndrome 1 N/A N/A No information
Pseudohermaphroditism male with gynecomastia N/A N/A No information
Pseudoaminopterin syndrome N/A N/A No information
Pallister-Ulnar mammary syndrome N/A N/A No information
Pulmonary cystic lymphangiectasis N/A N/A No information
Acrofacial dysostosis Rodriguez type N/A N/A No information
Coxa vara, congenital N/A N/A No information
Acromesomelic dysplasia Brahimi Bacha type N/A N/A No information
Allain Babin Demarquez syndrome N/A N/A No information
Albright like syndrome N/A N/A No information
Ampola syndrome N/A N/A No information
Al Awadi syndrome N/A N/A No information
Acromesomelic dysplasia Hunter Thompson type N/A N/A No information
Acrofacial dysostosis Catania form N/A N/A No information
Acromelic frontonasal dysplasia N/A N/A No information
ADULT syndrome N/A N/A No information
Al Gazali Aziz Salem syndrome N/A N/A No information
Acrofacial dysostosis, Palagonia type N/A N/A No information
Thanatophoric dysplasia N/A N/A No information
Buttiens-Fryns syndrome N/A N/A No information
BOR-Duane hydrocephalus contiguous gene syndrome N/A N/A No information
Baber's syndrome N/A N/A No information
Beemer-Ertbruggen syndrome N/A N/A No information
Carnevale-Hernandez-Castillo syndrome N/A N/A No information
Circumscribed cutaneous aplasia of the vertex N/A N/A No information
Blaichman syndrome N/A N/A No information
Basaran-Yilmaz syndrome N/A N/A No information
Chitty Hall Baraitser syndrome N/A N/A No information
Bixler-Christian-Gorlin syndrome N/A N/A No information
Ben-Ari-Shuper-Mimouni syndrome N/A N/A No information
Chitayat Meunier Hodgkinson syndrome N/A N/A No information
Lumbar malsegmentation -- short stature N/A N/A No information
Kashani-Strom-Utley syndrome N/A N/A No information
Rommen-Mueller-Sybert syndrome N/A N/A No information
Levotransposition of the great arteries N/A N/A No information
PHACE association N/A N/A No information
Cranioacrofacial syndrome N/A N/A No information
Coronaro-cardiac fistula N/A N/A No information
Kurczynski-Casperson syndrome N/A N/A No information
Le Marec-Bracq-Picaud syndrome N/A N/A No information
Faciocardiorenal syndrome N/A N/A No information
Thurman-Hillier syndrome N/A N/A No information
Smith-Lemli-Opitz syndrome, type 2 N/A N/A No information
Desbuquois syndrome N/A N/A No information
Ziprkowski-Adam syndrome N/A N/A No information
Arakawa's syndrome 2 N/A N/A No information
Pseudovaginal perineoscrotal hypospadias N/A N/A No information
Syndactyly, Cenani Lenz type N/A N/A No information
Forney Robinson Pascoe syndrome N/A N/A No information
AREDYLD N/A N/A No information
Acrofacial dysostosis, Weyers type N/A N/A No information
Ivemark II N/A N/A No information
Camptomelic dysplasia I N/A N/A No information
Banki syndrome N/A N/A No information
De Lange 1 N/A N/A No information
Ebstein's anomaly N/A N/A No information
Ductus arteriosus, patent reversed flow N/A N/A No information
Acrorenal mandibular syndrome N/A N/A No information
Lambert syndrome N/A N/A No information
Kniest-like dysplasia lethal 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
McKusick-Kaufman syndrome N/A N/A No information
Odontohypophosphatasia N/A N/A No information
Prune belly syndrome N/A N/A No information
Delleman-Oorthuys syndrome N/A N/A No information
Ziprkowski-Margolis syndrome N/A N/A No information
Sulfatidosis juvenile, Austin type N/A N/A No information
AChR deficiency and short channel open time N/A N/A No information
Chondrocalcinosis N/A N/A No information
Leigh syndrome, French Canadian type N/A N/A No information
Blue rubber bleb nevus N/A N/A No information
Fronto-facio-nasal dysplasia N/A N/A No information
Congenital generalized fibromatosis N/A N/A No information
Bartsocas Papa syndrome N/A N/A No information
W syndrome N/A N/A No information
Cavernous lymphangioma N/A N/A No information
Juberg-Hayward syndrome N/A N/A No information
Olmsted syndrome N/A N/A No information
Oxalosis, type I N/A N/A No information
Scott syndrome N/A N/A No information
Roberts syndrome N/A N/A No information
Congenital myasthenic syndrome with episodic apnea N/A N/A No information
Mounier-Kuhn syndrome N/A N/A No information
Broad beta disease N/A N/A No information
Absence of septum pellucidum and septo-optic dysplasia N/A N/A No information
Ventruto Digirolamo Festa syndrome N/A N/A No information
Winter Shortland Temple syndrome N/A N/A No information
Zori Stalker Williams syndrome N/A N/A No information
Yim Ebbin syndrome N/A N/A No information
Verloes-David Syndrome N/A N/A No information
Wiedemann Opitz syndrome N/A N/A No information
Willems De vries syndrome N/A N/A No information
Viljone Kallis Voges syndrome N/A N/A No information
Zazam Sheriff Phillips syndrome N/A N/A No information
Warburton Anyane Yeboa syndrome N/A N/A No information
Verloove Vanhorick Brubakk syndrome N/A N/A No information
Walbaum Titran Durieux Crepin syndrome N/A N/A No information
Worster Drought syndrome N/A N/A No information
Wolman disease N/A N/A No information
Verloes Gillerot Fryns syndrome N/A N/A No information
Von voss Cherstvoy syndrome N/A N/A No information
Vertical talus, congenital N/A N/A No information
WT limb blood syndrome N/A N/A No information
Wisconsin syndrome N/A N/A No information
Zlotogora syndrome N/A N/A No information
Wolf-Hirschorn syndrome N/A N/A No information
Weaver Johnson syndrome N/A N/A No information
Wegmann Jones Smith syndrome N/A N/A No information
Zunich neuroectodermal syndrome N/A N/A No information
Woods Black Norbury syndrome N/A N/A No information
Zerres Rietschel Majewski syndrome N/A N/A No information
Schneckenbecken dysplasia N/A N/A No information
Ivemark III N/A N/A No information
Elejalde syndrome N/A N/A No information
Amyoplasia N/A N/A No information
Dahlberg syndrome N/A N/A No information
Takahara syndrome N/A N/A No information
Boomerang dysplasia N/A N/A No information
Beta-mannosidosis N/A N/A No information
Beemer-Langer syndrome N/A N/A No information
Crane-Heise syndrome N/A N/A No information
Oculomelic amyoplasia N/A N/A No information
Currarino triad N/A N/A No information
Maumenee syndrome N/A N/A No information
Microcephaly, holoprosencephaly, and intrauterine growth retardation N/A N/A No information
Sillence syndrome N/A N/A No information
Knobloch syndrome N/A N/A No information
Rapadilino syndrome N/A N/A No information
Ivic Syndrome N/A N/A No information
Kuskokwim disease N/A N/A No information
Pashayan syndrome N/A N/A No information
Lewis (F.) syndrome N/A N/A No information
Silverman-Handmaker syndrome N/A N/A No information
King-Denborough syndrome N/A N/A No information
Homocarnosinosis N/A N/A No information
Sugarman II 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
Occult spinal dysraphism N/A N/A No information
Frontometaphyseal dysplasia N/A N/A No information
Krause-Kivlin syndrome N/A N/A No information
Cervicooculoacoustic syndrome N/A N/A No information
Oromandibular-limb hypogenesis spectrum N/A N/A No information
Yunis Varon syndrome N/A N/A No information
Lenz Majewski hyperostotic dwarfism N/A N/A No information
Focal dermal hypoplasia N/A N/A No information
Sirenomelia N/A N/A No information
Femoral facial syndrome 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
Limb-body wall complex 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
Ablepharon macrostomia syndrome N/A N/A No information
Spherophakia brachymorphia syndrome N/A N/A No information
Van der Woude 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
Acrofacial dysostosis, Nager type N/A N/A No information
Acrofacial dysostosis atypical postaxial N/A N/A No information
Pycnodysostosis N/A N/A No information
I cell disease N/A N/A No information
Anorchia N/A N/A No information
Craniosynostosis radial aplasia syndrome N/A N/A No information
Van der Woude syndrome 2 N/A N/A No information
Uhl anomaly N/A N/A No information
Urogenital adysplasia N/A N/A No information
Van Goethem syndrome N/A N/A No information
Urogenital adysplasia, hereditary N/A N/A No information
Venencie Powell Winkelmann syndrome N/A N/A No information
Upton Young syndrome N/A N/A No information
Urioste Martinez-Frias syndrome N/A N/A No information
Van Regemorter Pierquin Vamos syndrome N/A N/A No information
Van De Berghe Dequeker syndrome N/A N/A No information
Van den Bosch syndrome N/A N/A No information
Van Allen Myhre syndrome N/A N/A No information
Kanzaki disease N/A N/A No information
Pseudocholinesterase deficiency N/A N/A No information
Oxalosis N/A N/A No information
Sakati syndrome N/A N/A No information
Congenital tracheal stenosis N/A N/A No information
Cayler syndrome N/A N/A No information
Nonne-Milroy disease N/A N/A No information
Fallot syndrome N/A N/A No information
Dobriner syndrome N/A N/A No information
Warfarin syndrome N/A N/A No information
Frontonasal dysplasia N/A N/A No information
Lubs syndrome N/A N/A No information
Wolman syndrome N/A N/A No information
Corpus callosum agenesis N/A N/A No information
Oculo-dento-digital dysplasia dominant N/A N/A No information
Marcus-Gunn phenomenon N/A N/A No information
Acro-reno-ocular syndrome N/A N/A No information
Baetz-Greenwalt syndrome N/A N/A No information
Lipoid proteinosis of Urbach and Wiethe N/A N/A No information
Oxalosis, Type II N/A N/A No information

Incidence Statistics for Congenital conditions

Incidence statistics about Congenital conditions:

The following statistics relate to the incidence of Congenital conditions:

  • 29 infants were born alive with congenital disorders involving nervous system in the UK 2002 (University of Ulster, 2003)
  • 5 fetal deaths or still births occurred due to congenital disorders involving nervous system in the UK 2002 (University of Ulster, 2003)
  • 37 cases of induced abortions occurred following prenatal diagnosis of congenital disorders involving nervous system in the UK 2002 (University of Ulster, 2003)
  • Congenital disorders involving nervous system occurred in 24.15 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 7 infants were born alive with congenital disorders involving the eye in the UK 2002 (University of Ulster, 2003)
  • 0 fetal deaths or still births occurred due to congenital disorders involving the eye in the UK 2002 (University of Ulster, 2003)
  • 0 cases of induced abortions occurred following prenatal diagnosis of congenital disorders involving the eye in the UK 2002 (University of Ulster, 2003)
  • Congenital disorders involving the eye occurred in 2.38 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 4 infants were born alive with congenital disorders involving the ear in the UK 2002 (University of Ulster, 2003)
  • 0 fetal deaths or still births occurred due to congenital disorders involving the ear in the UK 2002 (University of Ulster, 2003)
  • 0 cases of induced abortions occurred following prenatal diagnosis of congenital disorders involving the ear in the UK 2002 (University of Ulster, 2003)
  • Congenital disorders involving the ear occurred in 1.36 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 270 infants were born alive with congenital heart disease in the UK 2002 (University of Ulster, 2003)
  • 9 fetal deaths or still births occurred due to congenital heart disease in the UK 2002 (University of Ulster, 2003)
  • 20 cases of induced abortions occurred following prenatal diagnosis of congenital heart disease in the UK 2002 (University of Ulster, 2003)
  • Congenital heart disease occurred in 101.72 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 28 infants were born alive with congenital disorders of digestive system in the UK 2002 (University of Ulster, 2003)
  • 2 fetal deaths or still births occurred due to congenital disorders of digestive system in the UK 2002 (University of Ulster, 2003)
  • 10 cases of induced abortions occurred following prenatal diagnosis of congenital disorders of digestive system in the UK 2002 (University of Ulster, 2003)
  • Congenital disorders of digestive system occurred in 13.61 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 30 infants were born alive with congenital disorders of internal urogenital system in the UK 2002 (University of Ulster, 2003)
  • 2 fetal deaths or still births occurred due to congenital disorders of internal urogenital system in the UK 2002 (University of Ulster, 2003)
  • 14 cases of induced abortions occurred following prenatal diagnosis of congenital disorders of internal urogenital system in the UK 2002 (University of Ulster, 2003)
  • Congenital disorders of internal urogenital system occurred in 15.65 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 8 infants were born alive with congenital disorders of external genital system in the UK 2002 (University of Ulster, 2003)
  • 2 fetal deaths or still births occurred due to congenital disorders of external genital system in the UK 2002 (University of Ulster, 2003)
  • 5 cases of induced abortions occurred following prenatal diagnosis of congenital disorders of external genital system in the UK 2002 (University of Ulster, 2003)
  • Congenital disorders of external genital system occurred in 5.1 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 17 infants were born alive with congenital limb disorders in the UK 2002 (University of Ulster, 2003)
  • 0 fetal deaths or still births occurred due to congenital limb disorders in the UK 2002 (University of Ulster, 2003)
  • 10 cases of induced abortions occurred following prenatal diagnosis of congenital limb disorders in the UK 2002 (University of Ulster, 2003)
  • Congenital limb disorders occurred in 9.19 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 38 infants were born alive with congenital musculoskeletal and connective tissue disorders in the UK 2002 (University of Ulster, 2003)
  • 5 fetal deaths or still births occurred due to congenital musculoskeletal and connective tissue disorders in the UK 2002 (University of Ulster, 2003)
  • 19 cases of induced abortions occurred following prenatal diagnosis of congenital musculoskeletal and connective tissue disorders in the UK 2002 (University of Ulster, 2003)
  • Congenital musculoskeletal and connective tissue disorders occurred in 21.09 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 99 infants were born alive with congenital chromosomal disorders in the UK 2002 (University of Ulster, 2003)
  • 11 fetal deaths or still births occurred due to congenital chromosomal disorders in the UK 2002 (University of Ulster, 2003)
  • 66 cases of induced abortions occurred following prenatal diagnosis of congenital chromosomal disorders in the UK 2002 (University of Ulster, 2003)
  • Congenital chromosomal disorders occurred in 59.88 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 11 infants were born alive with congenital absence, atresia and/or stenosis of the small intestine in the UK 2002 (University of Ulster, 2003)
  • 2 fetal deaths or still births occurred due to congenital absence, atresia and/or stenosis of the small intestine in the UK 2002 (University of Ulster, 2003)
  • 0 cases of induced abortions occurred following prenatal diagnosis of congenital absence, atresia and/or stenosis of the small intestine in the UK 2002 (University of Ulster, 2003)
  • Congenital absence, atresia and/or stenosis of the small intestine occurred in 4.42 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 9 infants were born alive with congenital absence, atresia and/or stenosis of the duodenum in the UK 2002 (University of Ulster, 2003)
  • 2 fetal deaths or still births occurred due to congenital absence, atresia and/or stenosis of the duodenum in the UK 2002 (University of Ulster, 2003)
  • 0 cases of induced abortions occurred following prenatal diagnosis of congenital absence, atresia and/or stenosis of the duodenum in the UK 2002 (University of Ulster, 2003)
  • Congenital absence, atresia and/or stenosis of the duodenum occurred in 3.74 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 5 infants were born alive with ano-rectal atresia and stenosis in the UK 2002 (University of Ulster, 2003)
  • 0 fetal deaths or still births occurred due to ano-rectal atresia and stenosis in the UK 2002 (University of Ulster, 2003)
  • 3 cases of induced abortions occurred following prenatal diagnosis of ano-rectal atresia and stenosis in the UK 2002 (University of Ulster, 2003)
  • Ano-rectal atresia and stenosis occurred in 2.72 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 0 infants were born alive with bilateral renal agenesis in the UK 2002 (University of Ulster, 2003)
  • 0 fetal deaths or still births occurred due to bilateral renal agenesis in the UK 2002 (University of Ulster, 2003)
  • 3 cases of induced abortions occurred following prenatal diagnosis of bilateral renal agenesis in the UK 2002 (University of Ulster, 2003)
  • Bilateral renal agenesis occurred in 1.02 per 10,000 births in the UK 2002 (University of Ulster, 2003)
  • 6 infants were born alive with tracheo-oesophagal fistula-oesophageal atresia and stenosis in the UK 2002 (University of Ulster, 2003)
  • 0 fetal deaths or still births occurred due to tracheo-oesophagal fistula-oesophageal atresia and stenosis in the UK 2002 (University of Ulster, 2003)
  • 2 cases of induced abortions occurred following prenatal diagnosis of tracheo-oesophagal fistula-oesophageal atresia and stenosis in the UK 2002 (University of Ulster, 2003)
  • Tracheo-oesophagal fistula-oesophageal atresia and stenosis occurred in 2.72 per 10,000 births in the UK 2002 (University of Ulster, 2003)

Types of Congenital conditions

For more information about types of Congenital conditions, refer to our section on types of Congenital conditions.

About incidence:

The medical term 'incidence' of Congenital conditions usually refers to the annual diagnosis rate of new cases of Congenital conditions. Prevalence is a different medical disease measure that refers to the estimated population of people who are managing Congenital conditions at any given time (e.g. prevalence includes people who have had a medical condition for a long time). For more information on prevalence and incidence statistics, see about prevalence and incidence statistics.



Footnotes:
1. Pathophysiology of Disease, Stephen J. McPhee, Vishwanash R. Lingappa, Willim F. Ganong, Jack D. Lang, Prentice Hall, 1995
2. Childhood Symptoms, Edward R. Brace, John P. Pacanowski, Ed Weiner, 1992
 

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