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
monoallelic_autosomal
absent gene product
loss_of_function_variant
| Panel | Confidence category |
|---|---|
| DD | definitive |
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