Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000070.2:c.717del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253600.3.1 | Lebanon | Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | Male | Yes | Yes | |
| 253600.3.2 | Lebanon | Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | Male | Yes | Yes | Brother of patient 253600.3.1 |
| 253600.3.4 | Lebanon | Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | Female | Yes | Yes | Niece of patient 253600.3.1 |