Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant) | Neurodevelopmental disorder with seizures and brain abnormalities | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with seizures and brain abnormalities +1 more | |
Click to view in NCBI Gene