Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_173076.3:c.6900C>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
601277.2.1 | Saudi Arabia | Scaling skin; Palmoplantar keratoderma; Erythroderma | Female | Yes | Yes | Index patient |
601277.2.2 | Saudi Arabia | Male | Yes | Father of 601277.2.1 |