For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
LAMC2 | biallelic_autosomal | absent gene product | LAMC2-related Epidermolysis Bullosa Junctional (lethal Herlitz) | Skin |