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GENATLAS PHENOTYPE

last update : 06-03-2013

Symbol	BBS13
Location	17q22
Name	Bardet-Biedl syndrome, locus 13
Corresponding gene	MKS1
Main clinical features	progressive retinal degeneration, obesity, polydactyly, cognitive impairment, kidney anomalies and hypogonadism
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)

pleiotropic clinical features and extensive genetic heterogeneity