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 |
|---|---|---|---|---|---|
| NEXMIF | monoallelic_X_hem | uncertain | NEXMIF-related Intellectual disability and epilepsy (XLR) | DD | |
| NEXMIF | monoallelic_X_het | absent gene product | NEXMIF-related Intellectual disability and epilepsy (XLD) | DD |