Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000359.3:c.877-2A>G | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
242300.11.1 | Egypt | Scaling skin; Erythema | Female | Yes | Yes | The patient had a similarly affected deceased brother |