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 |
|---|---|---|---|---|---|
| GPC3 | monoallelic_X_hem | absent gene product | GPC3-related SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | DD,Skeletal,Skin |