Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 06-03-2013

Symbol	BBS17
Location	3p21.31
Name	Bardet-Biedl syndrome 17
Corresponding gene	LZTFL1
Main clinical features	ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction
Genetic determination	autosomal recessive
Function/system disorder	eye
	kidney and urinary tract
	cardiovascular
Type	disease

Remark(s)