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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)