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 |
|---|---|---|---|---|---|
| ACTB | monoallelic_autosomal | absent gene product | ACTB Haploinsufficiency syndrome | DD | |
| ACTB | monoallelic_autosomal | altered gene product structure | ACTB-related BARAITSER-WINTER SYNDROME | DD | |
| ACTB | monoallelic_autosomal | altered gene product structure | ACTB-related BARAITSER-WINTER SYNDROME 1 | Eye |