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 |
|---|---|---|---|---|---|
| FIBP | biallelic_autosomal | absent gene product,altered gene product structure | FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome) | DD |