For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
STXBP1 | monoallelic_autosomal | absent gene product | STXBP1-related EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 | DD |