Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_019613.4:c.799C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617977.1.1 | United Arab Emirates | Global developmental delay; Spastic tetraplegia; Seizure; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum | Female | Yes | Yes | |
| 617977.1.3 | United Arab Emirates | Global developmental delay; Spastic tetraplegia; Seizure; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum | Female | Yes | Yes | Sibling of 617977.1.1 |
| 617977.1.4 | United Arab Emirates | Male | Father of 617977.1.1 | |||
| 617977.1.5 | United Arab Emirates | Female | Mother of 617977.1.1 |