For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
RAD50 | biallelic_autosomal | absent gene product | RAD50-related NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER | DD |