Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000359.3:c.428G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
242300.5.1 | Egypt | Congenital nonbullous ichthyosiform erythroderma; Scaling skin | Male | Yes | Yes | |
242300.5.2 | Egypt | Congenital nonbullous ichthyosiform erythroderma; Scaling skin | Female | Yes | Yes | First cousin, once removed, of 242300.5.1 |
242300.5.3 | Egypt | Male | Yes | Father of 242300.5.1 | ||
242300.5.5 | Egypt | Male | Yes | Father of 242300.5.2 | ||
242300.5.6 | Egypt | Female | Yes | Mother of 242300.5.2 |