Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015308.5:c.683C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 206920.1.1 | Lebanon | Anophthalmia; 2-3 finger syndactyly; Postaxial foot polydactyly; Split hand | Male | Yes | ||
| 206920.1.2 | Lebanon | Male | Unaffected father of 206920.1.1 |