Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000405.5:c.164C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272750.2.1 | Saudi Arabia | Pseudobulbar signs; Spastic tetraparesis; Limb dystonia; Abnormal pyramidal sign; Chorea; Glabellar reflex; Loss of ambulation; Expressive aphasia; Cerebral atrophy; Death in early adulthood | Female | Yes | Yes | 'Patient 1' in the publication |
| 272750.2.2 | Saudi Arabia | Spastic tetraparesis; Limb dystonia; Chorea; Glabellar reflex; Scoliosis; Brain atrophy; Mental deterioration; Hypokinesia | Female | Yes | Yes | Sister of 272750.2.1 |