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GENATLAS PHENOTYPE

last update : 13-10-2012

Symbol	WLKWS6
Location	3p22.1
Name	Walker-Warburg syndrome 6
Other name(s)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
Corresponding gene	GTDC2
Other symbol(s)	MDDGA8
Main clinical features	cobblestone lissencephaly, enlarged ventricles, cerebellar hypoplasia, eye abnormalities, and hypotonia
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
Type	disease

Remark(s)