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 |
|---|---|---|---|---|---|---|
| 609311.4.1 | Algeria | Demyelinating peripheral neuropathy; Distal amyotrophy; Ataxia; Waddling gait | Male | Yes | Yes | |
| 609311.4.2 | Algeria | Demyelinating peripheral neuropathy; Distal amyotrophy; Ataxia; Waddling gait | Male | Yes | Yes | Sibling of 609311.4.1 |
| 609311.4.4 | Algeria | Demyelinating peripheral neuropathy; Distal amyotrophy; Ataxia; Waddling gait | Male | Yes | Yes | Sibling of 609311.4.1 |