Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Congenital sodium diarrhea

Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.

Corneal erosion

An erosion or abrasion of the cornea's outermost layer of epithelial cells.

Total: 1

(per page)

PMID (PMCID)
29575628	MALE	Infant
	Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
	Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A. Am J Med Genet A. 2018;176(4):997-1000.
	We present a child with congenital sodium diarrhea, cleft lip and palate, corneal erosions, optic nerve coloboma, and intermittent exotropia who was found to have biallelic mutations in SPINT2.