Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020376.4:c.662G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610717.1.2 | Lebanon | Myopathy; Vacuolated lymphocytes; Chronic diarrhea | Female | Yes | Sister of 610717.1.1 |