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GENATLAS PHENOTYPE
last update : 13-10-2012
Symbol WLKWS6
Location 3p22.1
Name Walker-Warburg syndrome 6
Other name(s)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
  • Corresponding gene GTDC2
    Other symbol(s) MDDGA8
    Main clinical features
  • cobblestone lissencephaly, enlarged ventricles, cerebellar hypoplasia, eye abnormalities, and hypotonia
  • Genetic determination autosomal recessive
    Function/system disorder eye
    neurology
    Type disease
    Remark(s)