Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001032280.2:c.749C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 113620.1.2 | Lebanon | Branchial anomaly; Coloboma; Abnormal facial shape; Bilateral cleft lip and palate; Preauricular pit; White forelock | Female | Yes | No | Daughter of 113620.1.1 |