For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
PSMC5 | monoallelic_autosomal | altered gene product structure | PSMC5-related developmental disorder (monoallelic) | DD |