Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006640.4:c.(22+1_23–1)_(293_668–1)dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 162100.1.1 | Lebanon | Amyotrophy involving the shoulder musculature | Female | Yes | Yes | |
| 162100.1.3 | Lebanon | Amyotrophy involving the shoulder musculature | Male | Yes | Father of 162100.1.1 |