Male
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 | ||
242300.1.2 | United Arab Emirates | Female | Mother of 242300.1.1 |