Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003060.3:c.760C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 212140.4.1 | Saudi Arabia | Recurrent upper respiratory tract infections; Dilated cardiomyopathy; Cardiomegaly; Tachycardia; Failure to thrive; Recurrent gastroenteritis; Increased muscle lipid content; Ragged-red muscle fibers | Female | Yes | Yes | |
| 212140.4.2 | Saudi Arabia | Male | No | Father of 212140.4.1 |