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 |
|---|---|---|---|---|---|
| PCYT1A | biallelic_autosomal | absent gene product | PCYT1A-related SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY | DD,Eye,Skeletal |