Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018972.2:c.482G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 214400.G.1.1 | Tunisia | Distal lower limb amyotrophy; Distal upper limb amyotrophy; Thoracolumbar kyphosis; Impaired proprioception | Unknown | Yes | Unknown number of patients from families 'DUK 1404' & 'DUK 1405' in the publication | |
| 214400.G.1.2 | Tunisia | Distal lower limb amyotrophy; Distal upper limb amyotrophy; Thoracolumbar kyphosis; Impaired proprioception | Unknown | Yes | Unknown number of patients from 'DUK 1402' family in the publication |