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GENATLAS PHENOTYPE

last update : 01-07-2014

Symbol	WLKWS9
Location	13q34
Name	Walker-Warburg syndrome 9
Corresponding gene	COL4A1
Main clinical features	ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy lissencephaly, enlarged ventricles, cerebellar hypoplasia hypotonia, associated with occipital neural-tube defects, facial clefts, visceral malformations, and gonadal dysplasia
Genetic determination	autosomal recessive
Function/system disorder	eye
	mental retardation
	neuromuscular
Type	disease

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