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GENATLAS PHENOTYPE

last update : 16-01-2013

Symbol	WLKWS8
Location	12q14.2
Name	Walker-Warburg syndrome 8
Corresponding gene	TMEM5
Other symbol(s)	MDDGA9
Main clinical features	cobblestone lissencephaly, enlarged ventricles, cerebellar hypoplasia, eye abnormalities, and hypotonia, associated with occipital neural-tube defects, facial clefts, visceral malformations, and gonadal dysplasia
Genetic determination	autosomal recessive
Prevalence	9 p100 of WLKWS
Function/system disorder	eye
	neurology
	neuromuscular
Type	disease

Remark(s)