Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Complex cortical dysplasia with other brain malformations 2 +1 more | |
| | | Duplication (frameshift variant) | Abnormal facial shape +9 more | |
| | | Translocation | Corpus callosum, agenesis of +24 more | |
| | | Single nucleotide variant (missense variant) | Severe brain malformation +3 more | |
| | | Duplication (frameshift variant) | not provided +5 more | |
Click to view in NCBI Gene