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 | Panel |
|---|---|---|---|---|
| SLX4 | biallelic | loss of function | FANCONI ANEMIA, COMPLEMENTATION GROUP P | |
| SLX4 | biallelic | loss of function | FANCONI ANEMIA COMPLEMENTATION GROUP P |