Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004614.5:c.504C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609560.5 | Lebanon | Motor delay; Hypotonia; Proximal muscle weakness; Motor regression; Respiratory failure; Elevated circulating creatine kinase concentration; Hyporeflexia; Dysphagia; Lactic acidosis; Thoracolumbar scoliosis; Ptosis | Male | |||
| 609560.6 | Lebanon | Motor delay; Hypotonia; Proximal muscle weakness; Motor regression; Elevated circulating creatine kinase concentration; Dysphagia | Female |