613217.G.1

Saudi Arabia

Intractable diarrhea; Abdominal distention; Abnormal urinary electrolyte concentration; Failure to thrive; Arthritis; Osteopenia

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002354.3:c.499dup	8		Diarrhea 5, with Tufting Enteropathy, Congenital

2 males and 2 families from 2 unrelated families

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613217.G.2	Saudi Arabia	Intractable diarrhea			Yes	Group of three unrelated patients. 2 females and 1 male.
613217.G.3	Saudi Arabia	Intractable diarrhea	Female		Yes	Group of two unrelated patients