Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000359.3:c.398_407dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242300.2.1 | Saudi Arabia | Congenital nonbullous ichthyosiform erythroderma; Scaling skin; Ectropion; Eclabion; Retractile testis | Male | Yes | Yes | Index patient |
| 242300.2.3 | Saudi Arabia | Female | Yes | Mother of 242300.2.1 |