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Symptoms » Reduced muscle tone » Glossary
 

Glossary for Reduced muscle tone

Medical terms related to Reduced muscle tone or mentioned in this section include:

  • 10q Partial Trisomy: A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the duplicated genetic material.
  • 14q+ syndrome: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • 14qter deletion Syndrome: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • 2p21 deletion syndrome: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
  • 4p16.3 deletion: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
  • ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • Abnormal muscle tone: The presence of muscle tone either increased or decreased that varies from what is considered normal
  • Absent corpus callosum -- cataract -- immunodeficiency: A rare syndrome characterized by immunodeficiency, cleft lip or palate, cataract, reduced pigmentation and brain abnormalities.
  • Acetyl-coa acetyltransferase 2 deficiency: A rare disorder where a genetic anomaly results in a deficiency of a particular enzyme (Acetyl-coa acetyltransferase 2) which is associated with mental retardation and reduced muscle tone. The enzyme is involved in lipid metabolism
  • Achondroplasia: A rare disease characterized by abnormal bone growth which results in short stature with short arms and legs, large head and characteristic facial features.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrodynia: A disease occurring in infants or young children. Symptoms include edema, pruritis, skin rash, extremities are pink, cheeks and nose are scarlet, profuse sweating, digestive disturbance, photophobia, polyneuritis, irritability, listlessness, apathy and failure to thrive.
  • Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Agyria: Abnormal condition where the body excessively absorbs silver salts and deposits it in the tissues. Symptoms include gray skin and mucous membranes.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Aldolase A deficiency: A rare condition where a deficiency of the enzyme called aldolase A causes muscle problems and anemia.
  • Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Aminoacylase 1 deficiency: A rare genetic disorder caused by an enzyme (aminoacylase-1) deficiency. There is still uncertainty whether the deficiency actually causes any of the symptoms observed in patients.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amyotonia congenita: A term used to describe conditions involving poor muscle tone that occurs from birth.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Arginine-glycine amidinotransferase deficiency: A rare enzyme deficiency which manifests as mental retardation, developmental delay and speech problemss
  • Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
  • Arthrogryposis, congenital -- myopathic seizures: A rare syndrome characterized by mental retardation and muscle problems.
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Ataxia tapetoretinal degeneration: Conditions involving incoordination and an eye anomaly.
  • Ativan overdose: Ativan is a prescription drug mainly used to treat anxiety. Excessive doses of the drug can result in various symptoms and even death in severe cases.
  • Atypical pyridoxine-dependent seizures: A form of epilepsy which responds to anticonvulsant therapy for only a period of time but are able to be managed by pyridoxine supplementation after a few months. Seizures may disappear for a few months even after pyridoxine supplementation is ceased.
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
  • Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
  • Bartter Syndrome type 4: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4 also involves sensorineural deafness.
  • Bartter Syndrome type 4A: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4A also involves sensorineural deafness.
  • Bartter Syndrome type 4B: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4B also involves sensorineural deafness.
  • Behavioral symptoms: Symptoms of personal behavior.
  • Benign congenital hypotonia: A rare condition where an infant has a severe lack of muscle tone which progressively improves and usually disappears within 10 years.
  • Benign paroxysmal torticollis of infancy: A harmless condition characterized by recurring periods of head tilting resulting from dystonia (sustained muscle contractions) of the neck muscles. Other symptoms such as vomiting and irritability may also occur variably. Episodes tend to occur without any noticeable triggers and may last from hours to days. Episodes can occur as often as every two weeks or as infrequently as every couple of months.
  • Bentham-Driessen-Hanveld syndrome: A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
  • Beta-hydroxybutyric aciduria: A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to deficiency of the enzyme called succinic semialdehyde dehydrogenase.
  • Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid. The severity of symptoms is variable. There are two subtypes of the condition: Type 2 involves eye anomalies as well as female fertility problems whereas type 1 only involves the eye anomalies.
  • Body symptoms: Symptoms affecting the entire body features.
  • Boylan-Dew-Greco syndrome: A very rare syndrome characterized primarily by insufficient myelination of peripheral nerves and contractures at birth. The myelin sheath is a protective coating around nerves.
  • Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • Brain symptoms: Symptoms affecting the brain
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CDG syndrome type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
  • COFS syndrome: A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage.
  • Campomelic Syndrome: A rare condition characterized by dwarfism due to bowed shin and thigh bones as well as various craniofacial and other skeletal anomalies.
  • Carbamoyl-phosphate synthase 1 deficiency: A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated.
  • Carbohydrate deficiency glycoprotein syndrome type II: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
  • Carcinoid syndrome: Carcinoid heart disease is a rare, metastatic disease that occurs predominantly in the right heart. The tricuspid and pulmonic valves are affected, leading to right heart failure, which results in increased morbidity and mortality.
  • Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidneys as well as the muscles.
  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Cardiomyopathy -- hypotonia -- lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
  • Carnitine transporter deficiency: An inherited deficiency of carnitine caused by the impaired ability of the carnitine transporter protein to carry the carnitine to where it is needed. Instead the carnitine is excreted through the urine. Fasting or illness can trigger a severe attack.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
  • Cerebellar ataxia -- intellectual deficit -- optic atrophy -- skin abnormalities: A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities.
  • Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
  • Cerebellar hypoplasia -- endosteal sclerosis: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
  • Cerebellar hypoplasia -- tapetoretinal degeneration: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and a nonprogressive eye disorder involving the retinal pigments. The cerebellum is the part of the brain that controls balance and movement.
  • Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
  • Cerebro-Oculo-Facio-Skeletal Syndrome: A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage.
  • Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
  • Chemical poisoning -- Amitraz: Amitraz is a chemical used mainly as a topical parasitic preventative in livestock and fruit trees. It is also used as an insect repellant and a prevention of mite infestation. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Barium: Barium is an element used in fireworks, glassmaking, contrast X-rays and in the electronics industry . The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • Chromosome 1, Terminal deletion: A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 1, monosomy 1p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia.
  • Chromosome 1, monosomy 1q4: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.
  • Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
  • Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
  • Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
  • Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
  • Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
  • Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
  • Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
  • Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
  • Chromosome 13q partial deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14 deletion: A rare genetic disorder where deletion genetic material from chromosome 14 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted.
  • Chromosome 14q terminal deletion syndrome: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • Chromosome 14q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • Chromosome 14qter deletion: A very rare genetic condition where a portion at the end of the long arm (q) of chromosome 14 is missing.
  • Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
  • Chromosome 15, trisomy mosaicism: A rare chromosomal disorder where duplication of a portion of chromosome 15 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities.
  • Chromosome 15q duplication mosaicism: A rare chromosomal disorder where duplication of a portion of chromosome 15 in some of the body's cells causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 15q triplication syndrome: A rare chromosomal disorder where there are three copies of a part of the long arm of chromosome 15 resulting in various anomalies.
  • Chromosome 15q, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, partial duplication (unbalanced translocation): A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17 deletion: A rare genetic disorder where deletion genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted.
  • Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 17 trisomy: A rare genetic disorder where duplication of genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is duplicated.
  • Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
  • Chromosome 18, Monosomy 18p: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 18p minus syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome18 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 18q- Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
  • Chromosome 19q13.11 Deletion syndrome: A rare genetic syndrome involving features such as poor fetal growth, reduced fetal activity, developmental problems and various other physical symptoms.
  • Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
  • Chromosome 2, monosomy 2p22: A rare chromosomal disorder where deletion of a portion of chromosome 2 causes various abnormalities such as deafness, intestinal problems, mental retardation and speech defects.
  • Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
  • Chromosome 20q duplication syndrome: A rare chromosomal disorder involving a duplication of the long arm (q) of chromosome 20 resulting in various physical and developmental abnormalities.
  • Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
  • Chromosome 21, tetrasomy 21q: A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies.
  • Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
  • Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
  • Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
  • Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
  • Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
  • Chromosome 3, monosomy 3q13: A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility.
  • Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
  • Chromosome 4 Ring: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.
  • Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
  • Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4p15-16 deletion syndrome: A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 6, monosomy 6p23: A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 6pter-p24 Deletion Syndrome: A rare genetic syndrome characterized by deletion of genetic material in the chromosomal region 6pter-p24.
  • Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 7, monosomy 7q21: A rare chromosomal disorder characterized by mental retardation, short stature, facial anomalies and muscle and distal limb abnormalities.
  • Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.
  • Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7q partial deletion: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of deleted genetic material.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 9, Partial Monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 9, Tetrasomy 9p: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
  • Chromosome 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
  • Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
  • Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms.
  • Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
  • Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
  • Chronic Inflammatory Demyelinating Polyneuropathy: A rare disorder involving swelling of nerve roots and destruction of the protective layer around nerves. Severe symptoms can take up to a year or more to develop.
  • Chronic inflammatory demyelinating polyneuropathy: A rare disorder involving swelling of nerve roots and destruction of the protective layer around nerves. Severe symptoms can take up to a year or more to develop.
  • Classical pyridoxine-dependent seizures: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
  • Cockayne syndrome type 1: A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 1 is an early-onset form and involves progressive symptoms that usually start after 1 year of age.
  • Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features.
  • Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
  • Coleman Randall syndrome: A rare condition (one reported case) characterized by deafness, underdeveloped gonads, pili torti and a deficiency of growth and luteinizing hormone.
  • Coloboma porencephaly hydronephrosis: A rare syndrome characterized by the presence of a coloboma of the eye (absence of portion of the eye structure), kidney problems and a brain anomaly (porencephaly).
  • Combined oxidative phosphorylation deficiency 5: An inherited mitochondrial disorder which starts before birth and usually results in death within months of birth.
  • Common symptoms: The most common symptoms
  • Congenital Disorder of Glycosylation, Type 1n: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1N has a defect in the RFT1 gene which results in decreased activity of an enzyme called dolichol-phosphage-mannose (Dol-P-M).
  • Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital brain dysgenesis due to glutamine synthetase deficiency: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death within weeks of birth.
  • Congenital disorder of Glycosylation type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
  • Congenital disorder of glycosylation type 1/IIX: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type I/IIX refers to cases where the specific abnormality cannot be determined.
  • Congenital disorder of glycosylation type 1F: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IF is caused by a defect on chromosome 17p13.1-p12 and involves a defect on the MPDU1 gene.
  • Congenital disorder of glycosylation type 1G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IG is caused by a defect on chromosome 22q13.33 and involves the gene for a particular enzyme (dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase).
  • Congenital disorder of glycosylation type 1I: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ii is caused by a defect on chromosome 9q22 and involves a defect on the ALG2 gene.
  • Congenital disorder of glycosylation type 1J: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ij is caused by a defect on chromosome 11q23.3 and involves a defect on the gene for UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase.
  • Congenital disorder of glycosylation type 1K: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth.
  • Congenital disorder of glycosylation type 1M: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Im is caused by a defect on chromosome 9q34.11 and involves a defect in the TMEM15 gene.
  • Congenital disorder of glycosylation type 1X: Congenital disorder of glycosylation is a rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1X also involves thrombocytopenia with normal levels of phosphomannomutase and phosphomannose isomerase. This form of the condition is severe and results in death during infancy.
  • Congenital disorder of glycosylation type 2C: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter.
  • Congenital disorder of glycosylation type 2D: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2d is caused by a defect on chromosome 9p13 and involves a defect in the gene for beta-1,4-galactosyltransferase.
  • Congenital disorder of glycosylation type 2E: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2e is caused by a defect on chromosome 16p and involves a defect in the gene for oligomeric complex-7.
  • Congenital disorder of glycosylation type 2G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIg is caused by a defect on chromosome 17q25.1 and involves a defect on the COG1 gene.
  • Congenital disorder of glycosylation type 2H: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIh is caused by a defect on chromosome 16q22.1 and involves a defect on the COG8 gene.
  • Congenital disorder of glycosylation type IIH: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIh is caused by a defect on chromosome 16q22.1 and involves a defect on the COG8 gene.
  • Congenital disorder of glycosylation, type In: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1n involves a defect in the RFT1 gene and is characterized mainly by enlarged liver, seizures, developmental delay, reduced muscle tone and abnormal blood coagulation.
  • Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
  • Congenital myotonic dystrophy: A form of muscular dystrophy which is usually apparent at birth or within a few years. and affects the skeletal muscles, heart conduction, smooth muscle, eyes and the central nervous system. The range of severity varies from asymptomatic to fetal death.
  • Convulsions, benign familial infantile, 1: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters.
  • Convulsions, benign familial infantile, 3: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters. Type 3 is linked to a genetic defect on chromosome 2q23-q24.3.
  • Convulsions, benign familial infantile, 4: An inherited form of seizures that occurs in infancy and early childhood. Symptoms only occur during the seizures. The seizures tend to occur in clusters. Type 4 is linked to a genetic defect on chromosome 1p36.12-p35.1.
  • Corpus callosum agenesis -- blepharophimosis -- Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Craniofrontonasal syndrome Teebi type: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • Craniotubular syndrome: A rare syndrome characterized mainly by bone overgrowth and sclerosis or hardening which affects mainly the skull but other bones are often involved as well. Craniodiaphyseal dysplasia is a similar condition but involves less severe hyperostosis and sclerosis.
  • Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
  • Cree leukoencephalopathy: A rare form of brain demyelination which usually starts between 3 and 9 months of age and death occurs by 21 months.
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • Cutis Laxa with Bone Dystrophy: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa with Growth and Developmental Delay: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa with or without Congenital Disorder of Glycosylation: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa, Autosomal Recessive, Type IIA: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis Laxa, Debre Type: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
  • Cystic leukoencephalopathy without megalencephaly: A rare genetic brain disorder characterized by the development of cystic changes in the brain resulting in neurological problems. The condition is nonprogressive.
  • Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures: A rare X-linked syndrome characterized mainly by mental retardation and seizures.
  • De Barsy Syndrome: A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.
  • De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Defect in synthesis of adenosylcobalamin: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning.
  • Deficiency of Member 8 Acyl-CoA Dehydrogenace Family: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • Degenerative motor system disease: Any of a number of condition characterized by destruction of nerves that carry signals to muscles (motor neurons) and results in various muscle problems. The nerve destruction is often progressive leading to increasingly severe muscle problems.
  • Del (2) (p13-p11.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (pter-p24) and dup (18) (q21-qter): A rare chromosomal disorder characterized by mental retardation, reduced muscle tone, obesity and eye anomalies. The physical appearance is similar to that of Prader-Willi syndrome. The observations were made in two reported cases.
  • Del (2) (q37.1-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q12-q21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del(1) (q32-q41): A very rare chromosomal disorder where a portion of the long arm (q32-q41) of chromosome one is missing.
  • Del(1) (q42-qter): A very rare chromosomal disorder where a portion of the long arm (q42-qter) of chromosome one is missing. The type and severity of symptoms is variable.
  • Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Deletion 18q: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion 22q13: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Deletion 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
  • Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
  • Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Deletion 6q16 q21: A rare chromosomal disorder characterized primarily by facial anomalies, mental retardation and a short head.
  • Deletion of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
  • Dennis cohen syndrome: A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair.
  • Developmental problems: Physical or mental development difficulty.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • Diaphanospondylodysostosis: A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems.
  • Disulfiram toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Dopamine beta hydroxylase deficiency: A very rare disorder involving a deficiency of dopamine beta-hydroxylase which affects production of noradrenaline and adrenaline and results in symptoms such as low blood pressure on standing, droopy eyelids and stuffy nose.
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Down's syndrome-like hypotonia: Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.
  • Duane anomaly -- mental retardation: A very rare syndrome characterized mainly by mental retardation and eye movement problems (Duane anomaly).
  • Dup (2) (q32.1-q35): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p24.1) and del (7) (pter-p22): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p25.1) and del (12) (pter-p13.3): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup(1) (p34.1-p31): A very rare chromosomal disorder where a portion of the short arm (p34.1-p31) of chromosome one is duplicated.
  • Dup(1) (q24-q41): A very rare chromosomal disorder (two reported cases) where a portion of the long arm (q24-q41) of chromosome one is duplicated. The type and severity of symptoms may vary - one patient died soon after birth whereas the other survived with severe problems.
  • Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Duplication 10q partial: A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the duplicated genetic material.
  • Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
  • Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Duplication 13: A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Duplication 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Dysequilibrium syndrome: A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination.
  • Dysharmonic skeletal maturation -- muscular fiber disproportion: A very rare syndrome characterized mainly by abnormal bone development and muscle problems.
  • Dysmorphism -- abnormal vocalization -- mental retardation: A very rare syndrome characterized mainly by mental retardation, facial abnormalities and an abnormal voice.
  • Dysmorphism -- cleft palate -- loose skin: A very rare syndrome characterized mainly by facial abnormalities, an opening in the roof of the mouth and loose skin.
  • Ehlers-Danlos syndrome type VI: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities.
  • Ehlers-Danlos syndrome, 6B: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
  • Ehlers-Danlos syndrome, arthrochalasic type: A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures - previously known as EDS types 7A and 7B.
  • Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
  • Ehlers-Danlos syndrome, kyphoscoliosis type: A rare genetic connective tissue disorder caused by deficiency of the lysyl hydroxylase enzyme and is characterized by progressive scoliosis and muscle weakness and fragile sclera - previously known as EDS type 6.
  • Ehlers-Danlos syndrome, progeroid form: A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
  • Electron Transfer Flavoprotein, deficiency of: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe.
  • Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
  • Emery-Nelson syndrome: A rare condition characterized by a flat face and hand and foot abnormalities.
  • Encephalopathy due to GLUT1 deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Epilepsy, Pyridoxine-Dependent: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
  • Epilepsy, pyridoxin-dependent: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
  • Epileptic encephalopathy, Lennox-Gastaut type: A rare genetic disorder characterized by mental retardation and physical anomalies. The brain condition is progressive and results in loss of previously acquired skills.
  • Epileptic encephalopathy, early infantile, 2: A genetic form of epilepsy which is severe and starts during infancy. The condition is considered an atypical form of Rett syndrome due to the development of stereotypical hand movements and repetitive behaviors. This form of the condition is caused by a defect on the CDKL5 gene.
  • Episodic ataxia, type 6: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes which tend to last for about half an hour. Type 6 is extremely rare and is caused by a defect on chromosome 5p13.
  • FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
  • FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
  • FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
  • FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
  • FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
  • FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
  • Face symptoms: Symptoms affecting the face
  • Facial clefting corpus callosum agenesis: A rare syndrome characterized by the association of facial clefts with a brain defect where the structure between the two halves of the brain (corpus callosum) fails to develop. Symptoms may vary somewhat depending on how much of the corpus callosum is missing and the extent of the facial clefting.
  • Fetal methylmercury syndrome: Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta.
  • Fetal warfarin syndrome: A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities.
  • Floppy infant syndrome: A term used to describe reduced muscle tone and muscle weakness in infants.
  • Free sialic Acid storage disease: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. There are mild and severe forms of the condition - the severe form result in death before birth or within a few years of birth.
  • Fried syndrome: A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner.
  • Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
  • Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
  • Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine.
  • GM1 gangliosidosis: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
  • Galloway syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities.
  • Galloway-Mowat Syndrome: A condition which is characterized by microcephaly, hiatal hernia and nephrotic syndrome
  • Gamma aminobutyric acid transaminase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called Beta-aminobutyrate aminotransferase.
  • Gangliosidosis generalized GM1, type 1: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
  • Gardner-Morrisson-Abbot syndrome: A rare syndrome characterized by thrombocytopenia and various other abnormalities present at birth.
  • Glutamate decarboxylase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called glutamate decarboxylase which causes seizures that will only respond to pyridoxine (vitamin B6).
  • Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
  • Glutaric Acidemia Type I: A condition which results in an inability to process the amino acids lysine, hydroxylysine and tryptophan
  • Glutaric aciduria 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Glutaric aciduria 2: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe and often results in death. Severe cases usually develop during childhood or infancy and usually involve metabolic acidosis and its associated symptoms. Milder cases may simply present with muscle weakness initially that develops in adulthood. Some cases may involve additional symptoms such as heart, liver and kidney problems, facial anomalies and genital abnormalities.
  • Glutaricaciduria type 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Glutaryl-CoA dehydrogenase deficiency: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity.
  • Glycogen Storage Disease IXa1: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. Thee are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXa is linked to a defect in the PHKA2 gene on chromosome Xp22.2-p22.1. It is inherited in a X-linked recessive manner which means that only males will exhibit symptoms though females may be carriers.
  • Glycogen Storage Disease IXb: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. There are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXb is linked to a defect in the PHKG2 gene on chromosome 16q12-q13 and is inherited in a recessive manner. The metabolic anomaly results in the accumulation of glycogen in the liver and muscle.
  • Glycogen Storage Disease IXc: Glycogen storage disease type IX is a relatively mild glycogen storage disease which involves a deficiency of the enzyme hepatic phosphorylase kinase. There are four subtypes of the condition, each caused by a different genetic defect which results in the enzyme deficiency. Type IXc is linked to a defect in the PHKG2 gene on chromosome 16p12.1-p11.2 and is inherited in a recessive manner.
  • Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
  • Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
  • Goldblatt-Wallis syndrome: A very rare syndrome characterized by mental retardation and an abnormally placed urethral opening in males.
  • Guanidinoacetate methyltransferase deficiency: A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to deficiency of the enzyme called guanidinoacetate methyltransferase.
  • Guillain-Barre Syndrome: An acute condition which is characterized by polyradiculoneuropathy that affects the peripheral nervous system
  • Guillain-Barre syndrome: An acute condition which is characterized by polyradiculoneuropathy that affects the peripheral nervous system
  • HADH deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • Haas-Robinson syndrome: A rare, recessively inherited disorder involving defective copper metabolism within the body which causes symptoms such as mental retardation, seizures and poor muscle tone.
  • Head symptoms: Symptoms affecting the head or brain
  • Hemolytic anaemia, lethal -- genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
  • Hemolytic anemia, lethal -- genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
  • Hemorrhagic shock and encephalopathy syndrome: A very rare severe condition characterized by sudden severe shock, brain disease and liver and kidney dysfunction which occurs in infants. The cause is unknown.
  • Hereditary carnitine deficiency: An inherited deficiency of carnitine resulting primarily in muscle problems. Severe symptoms can be triggered by periods of illness or fasting.
  • Hersh-Podruch-Weisskopk syndrome: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
  • Homocystinuria due to defect in methylation (cbl g): An inherited organic acid disorder where an enzyme deficiency (methionine synthase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
  • Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
  • Human Cytochrome Oxidase Deficiency: A condition characterized by a deficiency in cytochrome oxidase enzyme
  • Hydroxyacyl-coa dehydrogenase, type 2, deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Some cases simply involve developmental delay.
  • Hyperdibasic aminoaciduria type 2: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
  • Hyperglycinemia: Increased blood levels of glycine. There are two types of hyperglycinemia (ketotic and nonketotic) with different symptoms.
  • Hyperparathyroidism, neonatal severe primary: A very rare disorder where high levels of parathyroid levels affects the body's use of calcium. The bones lack sufficiency calcification and become weak.
  • Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
  • Hypomyelination neuropathy -- arthrogryposis: A very rare syndrome characterized primarily by insufficient myelination of peripheral nerves and contractures at birth. The myelin sheath is a protective coating around nerves.
  • Hypomyelination, Global Cerebral: A rare brain disorder involving reduced myelination of part of the brain (cerebrum) caused by the deficiency of an enzyme (aspartate-glutamate carrier 1). The condition was reported in one female patient.
  • Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
  • Hypopituitarism -- micropenis -- cleft lip palate: A very rare syndrome characterized mainly by low pituitary hormone level, small penis and a cleft lip and palate.
  • Hypothyroidism: The decreased activity of the thyroid gland
  • Hypotonia -- failure to thrive -- microcephaly: A rare fatal metabolic disorder characterized by reduced muscle tone, failure to thrive and a small head. The disease is caused by a deficiency of Leukotriene C4 synthase.
  • Hypotonia in children: Hypotonia in children refers to a lack of normal muscle tone in a child.
  • Hypotonia, Seizures and Precocious Puberty: A rare syndrome observed in three siblings and characterized mainly by seizures and reduced muscle tone. Early puberty was also observed in two of the children.
  • Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response: A very rare syndrome characterized by reduced muscle tone and nystagmus in infants and ataxia. The electrical signals in nerves that send messages from the ears to the brain were abnormal but usually there were no hearing problems
  • Hypotonia-cystinuria syndrome: A genetic disorder characterized by reduced muscle tone, growth hormone deficiency and unusual facial appearance. Failure to thrive occurs during the first years of life but is replaced by rapid weight gain in later childhood. This syndrome is a milder form of the 2p21 deletion syndrome.
  • IMAGe syndrome: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
  • Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1: A rare condition where a genetic anomaly affects the movement of calcium through the body and results in immune system problems. Defect 1 is linked to a defect in the ORAI1 gene on chromosome 12q24. The condition was reported in two siblings.
  • Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2: A rare condition where a genetic anomaly affects the movement of calcium through the body and results in immune system problems. Defect 1 is linked to a defect in the STIM1 gene on chromosome 11p15.5 The condition was reported in four siblings.
  • Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
  • Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
  • Infant epilepsy with migrant focal crisis: A rare disorder characterized by infant epilepsy and progressive brain disease.
  • Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.
  • Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
  • Infantile striato-thalamic degeneration: A very rare disorder involving degeneration of part of the brain - thalamus and striatum.
  • Intrauterine growth retardation -- metaphyseal dysplasia -- adrenal hypoplasia congenita -- genital anomalies: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
  • Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness: A rare syndrome characterized by wide-set eyes, psychomotor retardation, deafness and an eye abnormality.
  • Isobutyric aciduria: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • Isobutyryl-coenzyme A dehydrogenase deficiency: An extremely rare genetic condition where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine.
  • Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
  • Joubert Syndrome 1: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 1 is linked to a defect on chromosome 9q34.3.
  • Joubert Syndrome 10: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 10 is linked to a defect on chromosome Xp22.3.
  • Joubert Syndrome 2: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 2 is linked to a defect on chromosome 11p12-q13.3.
  • Joubert Syndrome 3: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 3 is linked to a defect on chromosome 6q23.3.
  • Joubert Syndrome 4: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 4 is linked to a defect on chromosome 2q13.
  • Joubert Syndrome 5: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 5 is linked to a defect on chromosome 12q21.3.
  • Joubert Syndrome 6: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 6 is linked to a defect on chromosome 8q21.13-q22.1.
  • Joubert Syndrome 7: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 7 is linked to a defect on chromosome 16q12.2.
  • Joubert Syndrome 8: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 8 is linked to a defect on chromosome 3q11.2.
  • Joubert Syndrome 9: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 9 is linked to a defect on chromosome 4p15.3.
  • Juberg-Marsidi syndrome: A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable.
  • Jung-Wolff-Back-Stahl syndrome: A very rare syndrome characterized mainly by brain abnormalities, mental retardation and facial and skull anomalies.
  • Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
  • Kaler-Garrity-Stern syndrome: A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair.
  • L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • L1 Syndrome: L1 Syndrome refers to range of disorders characterized by stiff muscles (spasticity) in the legs, reduced intelligence, excessive fluid in the brain (hydrocephalus) and abnormally bent thumbs. The range and severity of symptoms is highly variable. Disorders which varying forms of L1 Syndrome includes MASA syndrome, X-linked Corpus Callosum agenesis and X-linked Mental Retardation Complicated Hereditary Spastic Paraplegia type 1. The condition tends to produce mild if any symptoms in females in nearly all cases.
  • LADHSC deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • Lactic Acidosis, Fatal Infantile: The excessive accumulation of lactic acid in the blood which leads to metabolic acidosis.
  • Lactic acidosis congenital infantile: A rare congenital condition where an infant has high levels of lactic acid in the blood causing metabolic acidosis.
  • Lambdoid synostosis familial: Premature fusion of certain skull bones that results in the back of the head being flat. In familial cases, it tends to run in families and other abnormalities are occasionally associated.
  • Larsen-like syndrome, lethal form: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation.
  • Larsen-like syndrome, lethal type: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
  • Lateral meningocele syndrome: A rare syndrome characterized mainly by lateral meningoceles (openings in the spinal cord on the inside of the spine) as well as craniofacial anomalies. The syndrome is believed to involve the abnormal development of the spinal cord, cerebellum and cerebral cortex.
  • Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
  • Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT.
  • Leukodystrophy: A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptoms is determined by the chemical involved but one of the main symptoms for all the leukodystrophies is a gradual loss of previously acquired mental or physical skills.
  • Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema: A rare condition characterized by the association of arthritis, colitis, low blood gammaglobulin levels and brain anomalies.
  • Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
  • Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
  • Lissencephaly type 1, due to LIS 1 anomalies: A rare brain malformation where the surface of the brain is smoother than normal. Type 1 is caused by a defect on the LIS1 gene on chromosome 17p13.3. The severity of the symptoms are variable depending on the severity of the brain abnormality. Miller-Dieker syndrome is a subtype of this condition.
  • Lissencephaly with cerebellar hypoplasia, recessive: Abnormal brain development where the brain is abnormally smooth and the cerebellum is underdeveloped.
  • Lissencephaly, X-linked 2: A rare brain malformation where the surface of the brain is smoother than normal. Genital anomalies are also associated. The severity of the disorder is variable.
  • Long-Chain Acyl-CoA Dehydrogenase Deficiency: A condition which is characterized by a deficiency in long chain acyl-CoA dehydrogenase
  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme (3-hydroxyacyl-coenzyme A dehydrogenase) which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage.
  • Low birth weight -- dwarfism -- dysgammaglobulinemia: A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality.
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lower motor neuron weakness: Muscle weakness caused by neurological problems.
  • Lubs X-linked mental retardation syndrome: A severe inherited form of X-linked mental retardation.
  • Luteinizing hormone releasing hormone, deficiency of, with ataxia: A very rare syndrome characterized mainly by insufficient sex hormone production and impaired balance and coordination due to nervous system dysfunction.
  • M/SCHAD deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • MGA 4: MGA (methylglutaconic aciduria) is a rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • MULIBREY Nanism: A genetic condition
  • Malformations in neuronal migration: A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the most common symptoms associated with brain malformations.
  • Mannosidosis, alpha B lysosomal: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage.
  • Maple syrup urine disease, type 1A: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1A specifically involves a defect in the E1-alpha subunit gene.
  • Maple syrup urine disease, type 1B: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1B specifically involves a defect in the E1-beta subunit gene.
  • Maple syrup urine disease, type 2:
  • Maple syrup urine disease, type 3:
  • Maple syrup urine disease, type II: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 2 specifically involves a defect in the E2 subunit gene.
  • Maple syrup urine disease, type III: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 3 specifically involves a defect in the E3 subunit gene.
  • Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
  • Marfan Syndrome type 2: A very rare syndrome characterized by some of the skeletal and heart blood vessel abnormalities seen in Marfan syndrome but there are no eye abnormalities. The genetic cause of the two types is different.
  • Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
  • Marfanoid -- mental retardation syndrome autosomal: A very rare syndrome characterized mainly by psychomotor retardation, a flat face and some symptoms of Marfan syndrome (long arms and legs, tall stature, reduced skin fat and poor muscle tone).
  • Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
  • Marshall-Smith Syndrome: A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers.
  • Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • Medrano-Roldan syndrome: A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation.
  • Medulloblastoma: A type of brain tumor.
  • Megalocornea mental retardation syndrome: A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable
  • Mental Retardation, Joint Hypermobility With or without Metabolic Abnormalities: A rare syndrome observed in a small number of patients and characterized by the association of mental retardation, loose joints. Metabolic abnormalities occur in only some patients.
  • Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
  • Mental retardation -- coloboma -- slimness: A very rare syndrome characterized mainly by mental retardation, retinal coloboma and a slim build.
  • Mental retardation -- hypotonia -- skin hyperpigmentation: A rare condition characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation.
  • Mental retardation -- macrocephaly -- coarse facies -- hypotonia: A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone.
  • Mental retardation -- short stature -- deafness -- genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
  • Mental retardation X-linked dysmorphism: A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities.
  • Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Mental retardation, X-linked -- Dandy Walker malformation -- Basal ganglia disease -- Seizures:
  • Mental retardation, X-linked -- hypotonia -- facial dysmorphism -- aggressive behavior: A rare X-linked disorder characterized by mental retardation, reduced muscle tone, aggressive behavior and unusual facial appearance. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mental retardation, X-linked -- hypotonia -- recurrent Infections: A severe inherited form of X-linked mental retardation.
  • Mental retardation, X-linked, 59: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the sigma-2 subunit of the adaptor protein-1 gene on chromosome Xp22. Mental retardation ranged from mild to severe.
  • Mental retardation, X-linked, 91: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the ZDHHC15 gene on chromosome Xq13.3.
  • Mental retardation, X-linked, 93: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the BRWD3 gene. Female carriers may also suffer from some mental deficiency.
  • Mental retardation, X-linked, Stevenson type: A rare disorder characterized by mental retardation, reduced muscle tone and other anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body.
  • Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
  • Methylcobalamin deficiency, cbl E complementation type: An inherited organic acid disorder where an enzyme deficiency (cbl E) impairs the body's ability to break down cobalamin in the diet. This results in a buildup of homocystine which results in harmful affects.
  • Methylmalonic acidemia:
  • Methylmalonic acidemia -- homocystinuria: A rare inborn error of metabolism which results in impaired vitamin B12 metabolism. There are a number of forms of this condition with variable severity.
  • Methylmalonic acidemia, vitamin B12 responsive: A rare genetic disorder characterized by the impaired ability to make a chemical called adenosylcobalamin. Adenosylcobalamin is a derivative of vitamin B12. The defect results a biochemical abnormality which affects the body's normal biochemical functioning. The condition responds to the administration of vitamin B12.
  • Methylmalonic aciduria -- homocystinuria: A rare group of disorders characterized by methylmalonic aciduria and homocystinuria resulting from abnormal metabolism of vitamin B12 by the liver. There are various subtypes of the condition with varying ages of onset and severity of symptoms.
  • Methylmalonicaciduria, vitamin B12 unresponsive, mut 0: A metabolic disorder whose severity is somewhat variable - most patients die within months of birth with survivors having neurological problems. The condition involves abnormal metabolism of vitamin B12 which doesn't respond to treatment using vitamin B12 administration. This disorder is more severe than the mut (-) form
  • Mevalonic aciduria: A rare disorder of amino acid metabolism characterized by a defect in the enzyme mevalonate kinase.
  • Mickleson syndrome: A very rare syndrome characterized mainly by mental retardation and facial and skull anomalies.
  • Micro syndrome: A rare, recessively inherited disorder characterized by intellectual impairment, small head, various eye problems, small genitals and abnormal brain development.
  • Microcephalic primordial dwarfism, Toriello type: A very rare syndrome characterized mainly by dwarfism, mental retardation and other anomalies.
  • Microcephaly -- mental retardation -- retinopathy: A very rare syndrome characterized mainly by a small head, mental retardation and retinal disease.
  • Microcephaly -- seizures -- mental retardation -- heart disorders: A very rare syndrome characterized mainly by a small head, seizures, mental retardation and heart disorders.
  • Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
  • Microcephaly-Faciocardioskeletal syndrome: A rare syndrome characterized mainly by a small head and heart, facial and skeletal abnormalities. The specific abnormalities can vary somewhat e.g. heart abnormalities may include pulmonary artery atresia, ventricular septal defect, atrial septal defect, overriding aorta, tetralogy of Fallot, right ventricular hypertrophy or subpulmonary obstruction. Skeletal abnormalities tend to involve mainly the digits, forearms and lower legs.
  • Microlissencephaly -- micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
  • Microphthalmia syndromic, type 5: A rare inherited syndrome characterized by small eyes and various other abnormalities. The symptoms are variable to some degree.

Conditions listing medical symptoms: Reduced muscle tone:

The following list of conditions have 'Reduced muscle tone' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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