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GENATLAS PHENOTYPE
last update : 05-05-2012
Symbol NPHP5
Location 3q13-q21
Name nephronophtisis 5
Other name(s) Senior-Loken 5
Corresponding gene IQCB1
Other symbol(s) SLSN5
Main clinical features association of retinitis pigmentosa to renal alteration, constant among patients with a IQCB1 gene
Genetic determination autosomal recessive
Function/system disorder eye
kidney and urinary tract
Type disease
Gene product
Name IQ motif containing B1
Remark(s)