Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003900.4:c.311_312del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617145.2.1 | United Arab Emirates | Gait disturbance; Ataxia; Dystonia; Dysarthria; Vertical supranuclear gaze palsy; Mental deterioration; Cerebellar atrophy; Short stature; Mild hearing impairment | Female | Yes | Patient from 'family 2' in the publication | |
| 617145.2.2 | United Arab Emirates | Gait disturbance; Ataxia; Dystonia; Dysarthria; Vertical supranuclear gaze palsy; Mental deterioration; Cerebellar atrophy; Short stature; Mild hearing impairment | Female | Yes | Sister of 617145.2.1 | |
| 617145.2.4 | United Arab Emirates | Female | Mother of 617145.2.1 |