For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
HYLS1 | biallelic_autosomal | uncertain | HYLS1-related HYDROLETHALUS SYNDROME TYPE 1 | DD |