Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000501.4:c.631C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219100.3.2 | Lebanon | Redundant skin; Abnormal facial shape | Male | Yes | Yes | First cousin of 219100.3.1 |