Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Severe hydrocephalus +1 more | |
| | | Microsatellite (nonsense +1 more) | Optic atrophy +2 more | |
| | | Deletion | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lissencephaly +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene