Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018136.5:c.1138C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
608716.8.1 | Saudi Arabia | Hydranencephaly; Anal atresia; Atrial septal defect; Ventricular septal defect | Male | Yes | Yes |