Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003722.5:c.1766T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604292.3 | Oman | Polysyndactyly; Median cleft lip and palate; Abnormal facial shape; Triangular face | Male | Yes | De novo mutation |