242300.6.1

Egypt

Erythroderma; Scaling skin; Flexion contracture of finger

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 an affected brother that died as a neonate and two similarly affected sisters

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
242300.6.2	Egypt		Male	Yes		Father of 242300.6.1