Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001142633.3:c.1885C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615217.1.2 | Saudi Arabia | Dysmetria; Truncal ataxia; Dysarthria; Areflexia; Distal muscle weakness; Polyneuropathy; Oculomotor apraxia | Male | Yes | Yes | Brother of 615217.1.1 |
| 615217.1.3 | Saudi Arabia | Dysmetria; Truncal ataxia; Dysarthria; Areflexia; Distal muscle weakness; Polyneuropathy; Oculomotor apraxia | Female | Yes | Yes | Sister of 615217.1.1 |
| 615217.1.4 | Saudi Arabia | Dysmetria; Truncal ataxia; Dysarthria; Areflexia; Distal muscle weakness; Polyneuropathy | Female | Yes | Yes | Sister of 615217.1.1 |
| 615217.1.G | Saudi Arabia | Relatives of 615217.1.1 (parents + seven siblings) |