methylmalonic acidemia due to methylmalonyl-CoA...

Name
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Ontological Reference
MONDO:0009615
ClinVar Variants
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External Resources
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Curated by Classification Date Report
Dosagesensitivity on Gene Dosage Sensitivity Gene Associated with Autosomal Recessive Phenotype 06/01/2017 View report
Clinicalactionability on Clinical Actionability View report for scoring details 03/21/2018 View report