| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | |
Click to view in NCBI Gene