Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000359.3:c.428G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 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 | ||
| 242300.5.4 | Egypt | Female | Yes | Mother 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 |