Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001310338.2:c.456G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615084.1.1 | Lebanon | Progressive external ophthalmoplegia; Skeletal muscle atrophy; Respiratory distress ; | Male | Yes | ||
| 615084.1.2 | Lebanon | Progressive external ophthalmoplegia; Skeletal muscle atrophy; Respiratory distress ; | Female | Yes | Sibling of 615084.1.1 | |
| 615084.1.3 | Lebanon | Progressive external ophthalmoplegia; Exercise intolerance ; Skeletal muscle atrophy; Dyspnea; | Male | Yes | Sibling of 615084.1.1 | |
| 615084.1.4 | Lebanon | ; | Male | Father of 615084.1.1 |