Female
No
Yes
| 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. |
| 609311.2.2 | Lebanon | Male | No | No | Unaffected father of 609311.2.1 | |
| 609311.2.3 | Lebanon | Female | No | No | Unaffected mother of 609311.2.1 | |
| 609311.2.5 | Lebanon | Female | No | Yes | Unaffected sister of 609311.2.1 |