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GENATLAS PHENOTYPE
last update : 04-01-2019
Symbol WLKWS4
Location 1p34.1
Name Walker-Warburg syndrome 4
Other name(s)
  • muscle-eye-brain disease
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
    • Corresponding gene POMGNT1
    Other symbol(s) MEB, MDDGA3
    Main clinical features
  • severe mental retardation, ocular abnormalities (early-onset glaucoma), poor visual contact, congenital muscular dystrophy and polymicrogyria-pachygyria (lissencephaly type 2), brainstem and cerebellar abnormalities, spasticity, variable cortical dysplasia and ventricular enlargement
  • agenesis of corpus callosum
  • at MRI, hydrocephalus, bilateral frontal polymicrogyria, abnormal cerebellum, and characteristic flattened dystrophic pons
    • Genetic determination autosomal recessive
    Prevalence 17 p100 of WLKWS
    Related entries Walker-Warburg syndrome
    Function/system disorder eye
    mental retardation
    neuromuscular
    Type disease
    Gene product
    Name O-linked mannose beta 1, 2-N acetylglucosaminyltransferase (POMGNT1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)