For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
DLG3 | monoallelic_X_hem | absent gene product | DLG3-related INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 90 | DD |