| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003900.5:c.286C>T | 4 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617145.3.1 | Syria | Gait disturbance; Ataxia; Dysarthria; Vertical supranuclear gaze palsy; Mental deterioration; Muscle weakness; Thenar muscle atrophy; Scoliosis; Dysmetria; Cognitive impairment | Female | Yes | Yes | Patient from 'family 4' in the publication |
| 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. |