Disease association ontology term - MONDO:0013154 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Term summary
- ID
- MONDO:0013154
- Name
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.
