Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Microcephaly +2 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene