Disease & disorder
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
MONDO:0013158
An autosomal recessive muscular dystrophy caused by mutations in the LARGE 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 A6. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Background context
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.