Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004614.5:c.173A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609560.5 | United Arab Emirates | Motor delay; Hypotonia; Proximal muscle weakness; Motor regression; Respiratory failure; Elevated circulating creatine kinase concentration; Hyporeflexia; Dysphagia; Lactic acidosis; Thoracolumbar scoliosis; Ptosis | Male | |||
| 609560.7 | United Arab Emirates | Motor regression; Abnormal muscle fiber morphology; Mitochondrial respiratory chain defects; Respiratory distress; Hypotonia; Excessive daytime somnolence; Lactic acidosis | Male | Yes |