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 |
|---|---|---|---|---|---|
| NYX | monoallelic_X_hem | absent gene product | NYX-related NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | DD | |
| NYX | monoallelic_X_hem | absent gene product | NYX-related Night blindness, congenital stationary (complete), 1A, X-linked | Eye |