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 | Panel |
|---|---|---|---|---|
| IGF1R | biallelic | loss of function | INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, biallelic | |
| IGF1R | monoallelic | loss of function | INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO |