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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-10-2011
Symbol MDDGB3
Location 1p34.1
Name muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Other name(s)
  • muscular dystrophy with mental retardation and mild brain abnormalities
  • mental retardation, myopia, optic atrophy, and increased serum creatine kinase; brain MRI showed ventricular dilatation, diffuse white matter changes, cerebellar cysts, and pontine hypoplasia
  • Corresponding gene POMGNT1
    Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease