Female
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 |
272750.2.3 | Saudi Arabia | Chorea; Brain atrophy; Dysarthria; Spastic gait; Dystonia; Expressive aphasia; Hypokinesia | Male | Yes | Yes | Cousin of 272750.2.1 |