Unknown
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018972.2:c.92G>A | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
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 | |
214400.G.1.3 | Tunisia | Distal lower limb amyotrophy; Distal upper limb amyotrophy; Thoracolumbar kyphosis; Impaired proprioception | Unknown | Yes | Unknown number of patients from 'DUK 1403' family in the publication |