For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
TRIM44 | monoallelic_autosomal | altered gene product structure | TRIM44-related Aniridia 3 | Eye |