Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001139.3:c.1294C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242100.1.1 | Lebanon | Congenital nonbullous ichthyosiform erythroderma; Ectropion | Male | Yes |