226600.1.1

Syria

Abnormal blistering of the skin; Oral mucosal blisters; Anonychia; Camptodactyly of finger; Mitten deformity

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000094.3:c.188_189delinsC	2		Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
226600.1.2	Syria		Male	No		Father of 226600.1.1
226600.1.3	Syria		Female	No		Mother of 226600.1.1