For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
IHH | biallelic_autosomal | altered gene product structure | IHH-related ACROCAPITOFEMORAL DYSPLASIA | DD,Skeletal | |
IHH | monoallelic_autosomal | altered gene product structure | IHH-related BRACHYDACTYLY, TYPE A1 | DD,Skeletal |