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MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing (Version: )

Relevant disorders: R403
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
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1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
ACADM
BIALLELIC, autosomal or pseudoautosomalN/AN/A