Disease & disorder
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MONDO:0009667
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3. Results are keyword matches, not yet verified disease-to-outbreak relationships.
View muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 on the outbreak map →Advertisement
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.