Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018109.3:c.1468G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613672.1.1 | United Arab Emirates | Global developmental delay; Developmental regression; Hypotonia; Short stature; Failure to thrive; Cerebellar atrophy | Unknown | Yes | Has similarly affected siblings | |
| 613672.1.3 | United Arab Emirates | Male | Father of 613672.1.1 |