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 |
|---|---|---|---|---|---|
| FLVCR1 | biallelic_autosomal | altered gene product structure | FLVCR1-related ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA | DD,Eye |