Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006755.2:c.793del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
606003.4.1 | Saudi Arabia | Hepatosplenomegaly; Abnormal facial shape; Patent ductus arteriosus; Congenital hepatic fibrosis | Female | Yes | Yes | |
606003.4.2 | Saudi Arabia | Hepatosplenomegaly; Abnormal facial shape; Bronchiolitis; Abnormal bleeding; Patent foramen ovale; Atrial septal defect; Death in infancy | Male | Yes | Yes | Sibling of 606003.4.1 |