Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities +12 more | GConflicting classifications of pathogenicity |
| | | Deletion | Abnormality of metabolism/homeostasis +3 more | |
| | | Translocation | Hypernasal speech +9 more | |
Click to view in NCBI Gene