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 |