Male
No
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_139241.3:c.1698G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
609311.2.1 | Lebanon | Distal muscle weakness; Distal amyotrophy; Pes cavus; Hammertoe; | Female | No | Yes | The patient was able to walk without aid and only suffered from moderate functional impairment. |
609311.2.3 | Lebanon | Female | No | No | Unaffected mother of 609311.2.1 | |
609311.2.4 | Lebanon | Female | No | Yes | Unaffected sister of 609311.2.1 | |
609311.2.5 | Lebanon | Female | No | Yes | Unaffected sister of 609311.2.1 |