270200.4

United Arab Emirates

Congenital ichthyosiform erythroderma; Lower limb spasticity; Atrial septal defect

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000382.2:c.682C>T	2		Sjogren-Larsson Syndrome

2 similarly affected sisters