Disorder | OMIM* | Inheritance | Map | Gene | Mutation | Ref. |
---|---|---|---|---|---|---|
 |  |  | Location |  |  |  |
Primary congenital | 231300 | AR | 2p21 | CYP1B1 | E387K | |
Glaucoma | Â | Â | Â | Â | Â | Â |
Galactokinase | 230200 | AR | 17q24 | GK1 | P28T | |
Deficiency | Â | Â | Â | Â | Â | Â |
Polycystic kidney | 173900 | AD | 4q21-q23 | PKD2 | R306X** | |
Disease | Â | Â | Â | Â | Â | Â |
Hereditary motor and | 601455 | AR | 8q24 | NDRG1 | R148X | |
Sensory neuropathy-Lom | Â | Â | Â | Â | Â | Â |
Hereditary motor and | 605285 | AR | 10q23 | Â | Â | |
Sensory neuropathy-Russe | Â | Â | Â | Â | Â | Â |
Congenital cataracts facial | 604168 | AR | 18qter | Â | Â | |
dysmorphism neuropathy | Â | Â | Â | Â | Â | Â |
Limb girdle muscular | 253700 | AR | 13q12 | SGCG | C283Y | |
dystrophy type 2C | Â | Â | Â | Â | Â | |
Congenital myasthenia | 254210 | AR | 17p13 | CHRNE | 1267delG | |
Glanzmann | 273800 | AR | 17q21 | ITGA2B | IVS15DS, | |
Thrombasthenia | Â | Â | Â | Â | G-A+1 | Â |