Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_181882.2:c.1090C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614895.1.1 | Algeria | Unsteady gait; Kyphoscoliosis; Pes cavus; Distal muscle weakness; Distal amyotrophy; Sensory ataxia | Male | Yes | Yes | |
| 614895.1.2 | Algeria | Unsteady gait; Kyphoscoliosis; Pes cavus; Distal muscle weakness; Distal amyotrophy; Sensory ataxia | Male | Yes | Yes | Brother of 614895.1.1 |
| 614895.1.3 | Algeria | Unsteady gait; Kyphoscoliosis; Pes cavus; Distal muscle weakness; Distal amyotrophy; Sensory ataxia | Male | Yes | Yes | Brother of 614895.1.1 |
| 614895.1.5 | Algeria | Male | Yes | Unaffected father of 614895.1.1 | ||
| 614895.1.6 | Algeria | Male | Yes | Yes | Unaffected brother of 614895.1.1 |