| Genetic / Metabolic Disease |
OMIM number |
| Adenylosuccinase (adenylosuccinate lyase,
ADSL) deficiency |
103050 |
| Alagille syndrome |
118450 |
| Amish albinism |
606952 |
| Amish brittle hair syndrome
|
234050 |
| Autism spectrum disorders |
209850 |
| Beal's syndrome |
121050 |
| Byler disease |
211600 |
| Cartilage-hair hypoplasia
dwarfism |
250250 |
| Celiac disease |
212750 |
| Cerebral palsy with late onset Ig A nephropathy (?) |
|
| Charcot-Marie-Tooth disease |
214400 |
| Chicken breast disease (Amish nemaline myopathy) |
605455 |
| Chromosome 8 duplication |
|
| Cockayne syndrome |
216400 |
| Cohen syndrome |
216550 |
| Cortical dysplasia and focal
epilepsy syndrome |
|
| Crigler-Najjar syndrome Type 1
|
218800 |
| Down syndrome |
190685 |
| Duchenne muscular dystrophy |
310200 |
| Factor V deficiency |
227400 |
| Familial cleft lip with or without cleft palate
(?) |
|
| Familial craniosynostosis (?) |
|
| Familial deafness (?) |
|
| Familial seizure with mental retardation (?) |
|
| Ganglioside GM3 synthase (alpha 2,3-sialytransferase) deficiency
|
609056 |
| Glucose/galactose malabsorption |
606824 |
| Glutaric acidemia (glutary1-CoA
dehydrogenase deficiency) |
231670 |
| Hemophilia B – Factor IX
deficiency |
306900 |
| Hypertrophic cardiomyopathy (?) |
|
| Hypotonia, ataxia and developmental delay (?) |
|
| Hypotonia, excessive height, pectus excavatum
and mental retardation (?) |
|
| Hypertriglyceridemia – lipoprotein lipase deficiency or
apolipoprotein C-II deficiency |
238600 |
| Infantile lethal cardiomyopathy |
115197 |
| Juvenile glaucoma, failure to thrive and leukodystrophy (?) |
|
| Leigh syndrome |
256000 |
| Leri-Weill dyschondrosteosis |
127300 |
| Maple syrup urine disease
|
248600 |
| Maternal phenylketonuria (PKU)
|
|
| McKusick-Kaufman syndrome |
236700 |
| Metachromatic leukodystrophy |
250100 |
| Microcephalic osteodysplastic
primordial dwarfism, Type 1 |
210710 |
| Mitochondrilal respiratory
chain complex IV deficiency |
220110 |
| Phenylketonuria (PKU) - phenylalanine hydroxylase
deficiency |
261600 |
| Prolidase deficiency
|
170100 |
| Propionic acidemia – propionyl-CoA carboxylase
deficiency |
606054 |
| Pyruvate kinase deficiency of
red cell |
266200 |
| Rett syndrome |
312750 |
| Tarsal coalition |
186570 |
| Troyer syndrome
|
275900 |
| Usher syndrome, Type II |
276901 |
