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 |
|---|---|---|---|---|
| SPTBN2 | biallelic | loss of function | SCA14 | |
| SPTBN2 | monoallelic | dominant negative | Infantile ataxia with oculomotor and pyramidal signs |