Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006783.4:c.31G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 129500.1.1 | Lebanon | Hidrotic ectodermal dysplasia | Unknown | Yes | Lebanese German family | |
| 129500.1.2 | Lebanon | Hidrotic ectodermal dysplasia | Unknown | Yes | Sibling of 129500.1.1 |