Disease association ontology term - MONDO:0013160 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Term summary
- ID
- MONDO:0013160
- Name
- muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
- Ontology or CV name
- Disease association
- 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.
