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ID | DOID:0080580 |
Name | 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
Definition | A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency |
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