For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
SIM1 | monoallelic_autosomal | absent gene product | SIM1-related Severe obesity with neurobehavioral features | DD |