Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018972.4:c.581C>G | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 214400.3.1 | Morocco | Infantile muscular hypotonia; Areflexia; Hypertrophic nerve changes; Tremor by anatomical site; Abnormal foot morphology; Scoliosis; Abnormal pyramidal sign; Abnormal cranial nerve morphology; Dementia; Distal amyotrophy; Proximal amyotrophy; Impaired proprioception | Female | Yes | Yes | |
| 214400.3.2 | Morocco | Male | Yes | Father of 214400.3.1 | ||
| 214400.3.3 | Morocco | Female | Yes | Mother of 214400.3.1 | ||
| 214400.3.4 | Morocco | Male | Yes | Yes | Brother of 214400.3.1 | |
| 214400.3.5 | Morocco | Female | Yes | Yes | Sister of 214400.3.1 | |
| 214400.3.6 | Morocco | Male | Yes | Yes | Brother of 214400.3.1 | |
| 214400.3.7 | Morocco | Female | Yes | Yes | Sister of 214400.3.1 | |
| 214400.3.9 | Morocco | Functional motor deficit; Distal amyotrophy; Impaired proprioception; Areflexia; Abnormal foot morphology; Scoliosis | Female | Yes | Yes | First cousin of 214400.3.1 |
| 214400.3.10 | Morocco | Functional motor deficit; Distal amyotrophy; Impaired proprioception; Areflexia; Abnormal foot morphology; Scoliosis | Female | Yes | Yes | First cousin of 214400.3.1 |
| 214400.3.11 | Morocco | Male | Yes | Relative of 214400.3.1 | ||
| 214400.3.12 | Morocco | Female | Yes | Relative of 214400.3.1 | ||
| 214400.3.13 | Morocco | Female | Yes | Yes | First cousin of 214400.3.1 |