Disease & disorder
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
MONDO:0013160
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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MONDO disease family
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Trial status
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Investigated drug interventions
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Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.