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 |
|---|---|---|---|---|---|
| NRXN1 | biallelic_autosomal | absent gene product | NRXN1-related PITT HOPKINS 2 | DD | |
| NRXN1 | monoallelic_autosomal | absent gene product | NRXN1-related AUTISM | DD |