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References OMIM Gene GeneReviews HGMD HGNC
last update : 16-09-2013
Symbol MDDGB14
Location 3p21.31
Name muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
Corresponding gene GMPPB
Main clinical features
  • congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation
  • additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    mental retardation
    Type disease