Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_181882.2:c.1090C>T | 1 |
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 |
614895.1.4 | Algeria | Unsteady gait; Kyphoscoliosis; Pes cavus; Distal muscle weakness; Distal amyotrophy; Sensory ataxia | Female | Yes | Yes | Sister of 614895.1.1 |
614895.1.6 | Algeria | Male | Yes | Yes | Unaffected brother of 614895.1.1 |