Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | |
| | | Single nucleotide variant (missense variant +2 more) | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | |
| | | Single nucleotide variant (missense variant +2 more) | neuro-ectodermal phenotype +3 more | |
Click to view in NCBI Gene