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GENATLAS PHENOTYPE

last update : 12-07-2014

Symbol	NPHP14
Location	16q12.1
Name	nephronophthisis 14
Other name(s)	Joubert syndrome 19
Corresponding gene	ZNF423
Other symbol(s)	JBTS19
Main clinical features	infantile-onset nephronophthisis, cerebellar vermis hypoplasia, and situs inversus. progressive insidious polyuria due to reduced urinary concentrating ability preceding the decline of renal function and associated with an irregularly thickened tubular basement membrane (TBM), focal interstitial fibrosis
Genetic determination	autosomal recessive
Related entries	including Joubert syndrome 19
Function/system disorder	kidney and urinary tract
	eye
	neurology
	cardiovascular
Type	disease

Remark(s)