270420.1.1

United Arab Emirates

Diarrhea; Membranous choanal atresia; Hypernatremia; Metabolic acidosis; Renal duplication; Hypertelorism; Long philtrum

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_021102.4:c.443G>A	2		Diarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital Anomalies

The patient had an older sister with profuse diarrhoea who died at 21 days of age