Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Obesity +9 more | |
| | | Copy number loss | Intellectual disability, mild +7 more | |
| | | Copy number gain | Intellectual disability, mild +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cranial asymmetry +25 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene