Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001244710.2:c.686-1G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610542.2.2 | Saudi Arabia | Male | Father of 610542.2.G | |||
| 610542.2.G | Saudi Arabia | Muscle weakness | Unknown | Yes | Three siblings, all deceased. DNA was only available from parents |