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 |
---|---|---|---|---|---|---|
617977.3.1 | Saudi Arabia; Syria | Global developmental delay; Spastic tetraplegia; Microcephaly; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum | Female | Yes | Yes | Patient was from a Saudi Arabian family of Syrian origin |
617977.3.2 | Saudi Arabia; Syria | Male | Father of 617977.3.1 |