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 |
|---|---|---|---|---|---|
| HYCC1 | biallelic_autosomal | absent gene product | HYCC1-related LEUKODYSTROPHY HYPOMYELINATING TYPE 5 | DD | |
| HYCC1 | biallelic_autosomal | absent gene product | HYCC1-related LEUKODYSTROPHY, HYPOMYELINATING, 5 | Eye |