Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_003900.5:c.286C>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617145.3.2 | Syria | Gait disturbance; Ataxia; Dysarthria; Vertical supranuclear gaze palsy; Mental deterioration; Cognitive impairment; Dystonia | Male | Yes | Yes | Brother of 617145.3.1; patient had mild complex IV defect. |
617145.3.G | Syria | Relatives of 617145.3.1 (parents, 1 sister and 1 brother) |