Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001304480.1:c.1229T>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609311.3.1 | Lebanon | Demyelinating peripheral neuropathy; Scoliosis; Unsteady gait | Male | Yes | Yes | |
| 609311.3.2 | Lebanon | Demyelinating peripheral neuropathy; Scoliosis; Unsteady gait | Male | Yes | Yes | Sibling of 609311.3.1 |
| 609311.3.3 | Lebanon | Demyelinating peripheral neuropathy; Scoliosis; Unsteady gait | Male | Yes | Yes | First cousin once removed of 609311.3.1 |
| 609311.3.4 | Lebanon | Demyelinating peripheral neuropathy; Scoliosis; Unsteady gait | Female | Yes | Yes | Sibling of 609311.3.3 |
| 609311.3.5 | Lebanon | Demyelinating peripheral neuropathy; Unsteady gait | Male | Yes | Yes | First cousin of 609311.3.3 |
| 609311.3.6 | Lebanon | Demyelinating peripheral neuropathy; Scoliosis; Unsteady gait | Male | Yes | Yes | First cousin once removed of 609311.3.3 |
| 609311.3.8 | Lebanon | Demyelinating peripheral neuropathy; Scoliosis; Unsteady gait | Male | Yes | Yes | Sibling of 609311.3.6 |