226730.2.1

Kuwait

Congenital pyloric atresia; Protein-losing enteropathy; Diarrhea; Hypoalbuminemia

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000213.4:c.3941_3943del	2		Epidermolysis Bullosa, Junctional 5B, with Pyloric Atresia

The proband had a similarly affected sister, who died in infancy due to intractable diarrhoea and hypoalbuminaemia without skin lesions

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
226730.2.2	Kuwait		Male			Father of 226730.2.1