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GENATLAS PHENOTYPE
last update : 27-10-2011
Symbol WLKWS5
Location 19q13.32
Name Walker-Warburg syndrome 5
Other name(s)
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
    • Corresponding gene FKRP
    Other symbol(s) MDDGA5
    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 3 p100 of WLKWS
    Function/system disorder mental retardation
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   absent protein Met1Val mutation in the start codon cause the most severe disorder ( PMID: 20236121)
    Remark(s) . alteration of the secretion pathway by different mutations and spontaneous read-through of nonsense mutation may contribute to wide variations in phenotypes associated with FKRP-related diseases (PMID: 19900540))