Disease association ontology term - MONDO:0009364 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Term summary
- ID
- MONDO:0009364
- Name
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.
