226650.G.4

Sudan

Milia; Abnormality of skin pigmentation; Alopecia; Nail dystrophy; Oral mucosal blisters; Genital blistering; Anemia

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000494.4:c.3676C>T			Epidermolysis Bullosa, Junctional 1A, Intermediate

Unknown number of patients from 'family 3' in the publication