Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000359.3:c.398_407dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242300.3.2 | Saudi Arabia | Congenital nonbullous ichthyosiform erythroderma; Scaling skin; Ectropion; Eclabion; Hemangioma; Hypohidrosis | Male | Yes | Yes | Relative of 242300.3.1 |
| 242300.3.3 | Saudi Arabia | Congenital nonbullous ichthyosiform erythroderma; Scaling skin; Ectropion; Eclabion; Hemangioma; Hypohidrosis | Female | Yes | Yes | Relative of 242300.3.1 |
| 242300.3.4 | Saudi Arabia | Congenital nonbullous ichthyosiform erythroderma; Scaling skin; Ectropion; Eclabion; Hemangioma; Hypohidrosis | Female | Yes | Yes | Relative of 242300.3.1, Sister of 242300.3.3 |
| 242300.3.5 | Saudi Arabia | Male | Yes | Father of 242300.3.1 | ||
| 242300.3.6 | Saudi Arabia | Female | Yes | Mother of 242300.3.1 |