Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000359.3:c.975_976CT[1] | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
242300.4.1 | Saudi Arabia | Congenital nonbullous ichthyosiform erythroderma; Scaling skin; Ectropion; Eclabion; Palmoplantar keratoderma | Male | Yes | Yes | Index patient |
242300.4.3 | Saudi Arabia | Female | Yes | Mother of 242300.4.1 |