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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease