For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
|---|---|---|---|---|---|
| CRYGC | monoallelic_autosomal | absent gene product | CRYGC-related Cataract 2, multiple types | DD | |
| CRYGC | monoallelic_autosomal | absent gene product | CRYGC-related CATARACT 2, MULTIPLE TYPES | Eye |