Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_019613.4:c.673C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617977.2.1 | Saudi Arabia; Syria | Global developmental delay; Spastic tetraplegia; Seizure; Microcephaly | Male | Yes | Yes | Patient was from a Saudi Arabian family of Syrian origin |
| 617977.2.2 | Saudi Arabia; Syria | Global developmental delay; Spastic tetraplegia; Seizure; Microcephaly; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum | Female | Yes | Yes | Sibling of 617977.2.1 |