Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004078.3:c.447_460dup | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
306955.2.1 | Lebanon | Patent ductus arteriosus; Bilateral postaxial polydactyly | Female | Yes | Yes | |
306955.2.2 | Lebanon | Ventricular septal defect; Bilateral postaxial polydactyly; Finger syndactyly | Male | Yes | Yes | Sibling of 306955.2.1 |
306955.2.3 | Lebanon | Patent foramen ovale; Postaxial polydactyly | Female | Yes | Yes | Sibling of 306955.2.1. Monozygotic twin of 306955.2.4 |
306955.2.4 | Lebanon | Atrial septal defect | Female | Yes | Yes | Sibling of 306955.2.1. Monozygotic twin of 306955.2.3 |
306955.2.5 | Lebanon | Bilateral postaxial polydactyly | Male | Yes | Father of 306955.2.1 |