Congenital Muscular Dystrophy-Dystroglycanopathy with Intellectual Developmental Disorder Type B2

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 - MDDGB2