For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
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For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panel |
|---|---|---|---|---|
| TSC2 | monoallelic | loss of function | TUBEROUS SCLEROSIS-2 | |
| TSC2 | monoallelic | loss of function | TUBEROUS SCLEROSIS TYPE 2 | |
| TSC2 | monoallelic | loss of function | TUBEROUS SCLEROSIS TYPE 2 | |
| TSC2 | monoallelic | loss of function | TUBEROUS SCLEROSIS TYPE 2 |