242300.7.1

Egypt

Congenital nonbullous ichthyosiform erythroderma; Scaling skin; Ectropion; Eclabion

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000359.3:c.428G>A	2		Ichthyosis, Lamellar, 1

The patient had a similarly affected female cousin

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
242300.7.2	Egypt		Female	Yes		Mother of 242300.7.1