Male
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 | |
212140.4.3 | Saudi Arabia | Female | No | Mother of 212140.4.1 |