Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2
An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.
C126690
C3150416
Cellosaurus
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2
Disease or Syndrome
MDDGB2
Cellosaurus Disease Terminology
Cellosaurus Terminology
Mental Retardation
Muscular Dystrophy