Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_003384.3:c.656G>T | 1 | |||
NM_003384.3:c.761G>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
607088.1.1 | Lebanon | Progressive distal muscle weakness; Distal upper limb amyotrophy; Distal lower limb amyotrophy; Hyperreflexia; Motor polyneuropathy; ; | Female | Yes | No |