Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004614.5:c.635T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609560.2.1 | Palestine | Generalized hypotonia; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Elevated circulating creatine kinase concentration; Respiratory failure requiring assisted ventilation | Female | Yes | Several siblings died of a degenerative muscle disease | |
| 609560.2.2 | Palestine | Female | Mother of 609560.2.1 |