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 |
|---|---|---|---|---|---|
| GRIN2B | monoallelic_autosomal | absent gene product | GRIN2B-related INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6 | DD | |
| GRIN2B | monoallelic_autosomal | altered gene product structure | GRIN2B-related EPILEPTIC ENCEPHALOPATHY | DD |