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GENATLAS PHENOTYPE

last update : 09-11-2011

Symbol	WLKWS3
Location	22q13
Name	Walker-Warburg syndrome 3
Other name(s)	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Corresponding gene	LARGE
Other symbol(s)	MDDGA6
Main clinical features	characterized by hydrocephalus (H), agyria (A), retinal dysplasia (RD), with or without encephalocele associated with several distinct congenital muscular dystrophies, lissencephaly type 2 severe, profound hypotonia at birth, contractures, typically lethal in first years of life due to severe central nervous system involvement, hydrocephalus, with alpha-dystroglycan hypoglycosylation
Genetic determination	autosomal recessive
Prevalence	3 p100 of WLKWS
Function/system disorder	neurology
	eye
	neuromuscular
Type	disease

Remark(s)