For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
---|---|---|---|---|---|
COL4A5 | monoallelic_X_het | absent gene product | COL4A5-related Alport syndrome x-linked | Eye,Skin |