226650.2

Palestine; United Arab Emirates

Nail dystrophy; Oral mucosal blisters; Failure to thrive; Inflammatory abnormality of the skin

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000228.3:c.3247C>T	1		Epidermolysis Bullosa, Junctional 1A, Intermediate
NM_000228.3:c.1296_1297insA	1		Epidermolysis Bullosa, Junctional 1A, Intermediate

Compound heterozygous patient of Palestinian origin from 'family 4' in the publication