For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
KDM6A | monoallelic_X_het | absent gene product | KDM6A-related KABUKI SYNDROME 2 | DD |