For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
|---|---|---|---|---|---|
| XPNPEP3 | biallelic_autosomal | absent gene product | XPNPEP3-related NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 | DD |