226650.G.3

Saudi Arabia

Abnormality of skin pigmentation; Alopecia; Nail dystrophy; Oral mucosal blisters; Failure to thrive

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005562.3:c.136C>T			Epidermolysis Bullosa, Junctional 1A, Intermediate

Unknown number of patients from 'family 5' in the publication