Disorders
DDC clinic is providing care for patients with the following Genetic and Metabolic Diseases. Click on OMIM number to link to the OMIM database.
Genetic / Metabolic Disease |
OMIM number |
Adenylosuccinase (adenylosuccinate lyase, ADSL) deficiency |
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Alagille syndrome |
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Amish albinism |
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Amish brittle hair syndrome |
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Autism spectrum disorders |
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Beal's syndrome |
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Bipolar affective |
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Byler disease |
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Cartilage-hair hypoplasia dwarfism |
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Celiac disease |
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Charcot-Marie-Tooth disease |
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CHARGE syndrome |
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Chicken breast disease (Amish nemaline myopathy) |
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Chromosome 8 duplication |
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Cockayne syndrome |
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Cohen syndrome |
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Cortical dysplasia and focal epilepsy syndrome |
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Crigler-Najjar syndrome Type 1 |
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Developmental delay, tall stature and depression (?) |
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Developmental delay, feeding difficulties and obsessive compulsive disorder (?) |
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Dopa-responsivsive dystonia |
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Down syndrome |
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Duchenne muscular dystrophy |
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Febrile seizure, developmental delay and ataxia (?) |
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Factor V deficiency |
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Familial cleft lip with or without cleft palate (?) |
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Familial craniosynostosis (?) |
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Familial deafness (?) |
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Familial seizure with mental retardation (?) |
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Fructose intolerance |
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Galactosemia |
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Ganglioside GM3 synthase (alpha 2,3-sialytransferase) deficiency |
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Gaucher disease |
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Glucose/galactose malabsorption |
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Glutaric acidemia (glutary1-CoA dehydrogenase deficiency) |
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Hemophilia B – Factor IX deficiency |
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Hirschsprung disease |
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Holoprosencephaly |
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Hypertrophic cardiomyopathy |
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Hypotonia, ataxia and developmental delay (?) |
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Hypertriglyceridemia – lipoprotein lipase deficiency or apolipoprotein C-II deficiency |
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Infantile lethal cardiomyopathy |
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Leigh syndrome |
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Leri-Weill dyschondrosteosis |
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Maple syrup urine disease |
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Maternal phenylketonuria (PKU) |
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McKusick-Kaufman syndrome |
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Metachromatic leukodystrophy |
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Microcephalic osteodysplastic primordial dwarfism, Type 1 |
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Mitochondrilal respiratory chain complex IV deficiency |
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Neural tube defect (spinal bifida) |
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PANDAS |
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Phenylketonuria (PKU) - phenylalanine hydroxylase deficiency |
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Prolidase deficiency |
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Propionic acidemia – propionyl-CoA carboxylase deficiency |
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Pyruvate kinase deficiency of red cell |
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Ring chromosome 20 syndrome |
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Rett syndrome |
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Tarsal coalition |
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Rubinstein-Taybi syndrome |
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Russell Silver syndrome |
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SAMS association |
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Severe infantile colic |
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TMCO1 defect syndrome |
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Troyer syndrome |
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Usher syndrome, Type II |
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Yoder dystonia |
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OMIM: Online Mendelian Inheritance in Man,?: under study