For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panel |
---|---|---|---|---|
SDHA | monoallelic | loss of function | PARAGANGLIOMAS | |
SDHA | biallelic | all missense/in frame | LEIGH SYNDROME |