Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000359.3:c.1085T>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242300.1.1 | United Arab Emirates | Congenital nonbullous ichthyosiform erythroderma; Ectropion; | Female | Yes | ||
| 242300.1.3 | United Arab Emirates | Male | Fatther of 242300.1.1 |