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GENATLAS PHENOTYPE
last update : 09-11-2011
Symbol WLKWS2
Location 14q24.3
Name Walker-Warburg syndrome 2
Other name(s)
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type B, 2
  • Corresponding gene POMT2
    Other symbol(s) HARD, MDDGB2
    Main clinical features
  • characterized by hydrocephalus (H), agyria (A), retinal dysplasia (RD), with or without encephalocele, agenesis of the corpus callosum, congenital muscular dystrophy, with alpha-dystroglycan hypoglycosylation
  • Genetic determination autosomal recessive
    Prevalence 17 p100 of WLKWS
    Function/system disorder neurology
    eye
    neuromuscular
    Type disease
    Remark(s)