Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001849.4:c.2422+1G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 620725.2 | Saudi Arabia | Joint contracture; Talipes equinovarus; Failure to thrive; Short stature; Microcephaly; Motor delay; Hypotonia; Spasticity; Muscle weakness | Female | Yes | Yes | |
| 620725.3 | Saudi Arabia | Hypotonia; Muscle weakness; Failure to thrive; Short stature; Motor delay; Constipation; Hip contracture | Male | Yes |