Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder, autosomal dominant 74 | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder, autosomal dominant 74 | |
| | | Deletion (inframe deletion) | Intellectual developmental disorder, autosomal dominant 74 | |
Click to view in NCBI Gene