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 |
|---|---|---|---|---|---|
| LAMB2 | biallelic_autosomal | absent gene product | LAMB2-related Pierson syndrome | Eye | |
| LAMB2 | biallelic_autosomal | altered gene product structure | LAMB2-related Nephrotic syndrome, type 5, with or without ocular abnormalities | Eye |