Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004078.3:c.447_460dup | 1 | |||
| NM_014112.5:c.933G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 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 | |
| 306955.2.6 | Lebanon | Female | Mother of 306955.2.1 |