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 |
|---|---|---|---|---|---|
| RIGI | monoallelic_autosomal | altered gene product structure | RIGI-related SINGLETON-MERTEN SYNDROME | DD,Skeletal | |
| RIGI | monoallelic_autosomal | altered gene product structure | RIGI-related Singleton-Merten syndrome 2 | Eye |