Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000540.3:c.6617C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 255320.2 | Saudi Arabia | Hypotonia; Muscle weakness; Easy fatigability; Exercise intolerance; Autophagic vacuoles | Male |