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GENATLAS PHENOTYPE
last update : 16-01-2013
Symbol WLKWS1
Location 9q34
Name Walker-Warburg syndrome 1
Other name(s)
  • hydrocephalus, agyria, and retinal dysplasia
  • hard +/- E syndrome
  • Pagon syndrome
  • Chemke syndrome
  • muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
    • Corresponding gene POMT1
    Other symbol(s) FCMD, HARD, MDDGB1
    Main clinical features
  • characterized by hydrocephalus (H), agyria (A), retinal dysplasia (RD), with or without encephalocele associated with several distinct congenital muscular dystrophies (Chemke or Pagon syndrome), lissencephaly type 2
  • severe, profound hypotonia at birth, contractures, typically lethal in first years of life due to severe central nervous system involvement, hydrocephalus
  • agenesis of corpus callosum
    • Genetic determination autosomal recessive
    Prevalence 42 p100 of WLKWS
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Gene product
    Name O-mannosyltransferase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   abnormal protein/loss of function result in a defect of protein O-mannosylation that may cause failure of binding between alpha-dystroglycan and laminin or other molecules in the extracellular matrix and interrupt normal muscular function and migration of neurons in developing brain
    Remark(s)