Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_181882.2:c.586C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614895.2.1 | Lebanon | Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | Male | Yes | Yes | |
| 614895.2.3 | Lebanon | Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | Male | Yes | Yes | Brother of 614895.2.1 |
| 614895.2.4 | Lebanon | Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | Female | Yes | Yes | Sister of 614895.2.1 |
| 614895.2.5 | Lebanon | Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | Female | Yes | Yes | Sister of 614895.2.1 |
| 614895.2.6 | Lebanon | Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | Male | Yes | Yes | Second degree relative of 614895.2.1 |
| 614895.2.7 | Lebanon | Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | Female | Yes | Yes | Second degree relative of 614895.2.1 |
| 614895.2.8 | Lebanon | Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | Male | Yes | Yes | Second degree relative of 614895.2.1 |