Female
Yes
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 |
|---|---|---|---|---|---|---|
| 242300.10.1 | Egypt | Scaling skin; | Female | Yes | Yes | The patient had a similarly affected brother as well as four affected female cousins |
| 242300.10.3 | Egypt | Scaling skin; Bilateral tonic-clonic seizure | Female | Yes | Yes | First cousin of 242300.10.1 |