Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000151.3:c.209G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 232200.6.1 | Lebanon | Increased sarcoplasmic glycogen; Increased hepatic glycogen content | Male | No | No | Lebanese father, French mother |