602400.G.1

United Arab Emirates

Congenital ichthyosiform erythroderma; Generalized Sparse hair; Hypohidrosis

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_021978.4:c.2269+1G>A	10		Ichthyosis, Congenital, Autosomal Recessive 11

Emirati family of Bedouin ancestry. 5 siblings affected (3 females and 2 males)