Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Pointed chin +14 more | |
| | | Single nucleotide variant (missense variant) | Stereotypic movement disorder +22 more | |
| | | Copy number gain | Delayed gross motor development +3 more | |
| | | Inversion | Hypertelorism +8 more | |
Click to view in NCBI Gene