Term Name: | 3-methylcrotonyl-CoA carboxylase 2 deficiency |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080580] ( DOID:0080580 ) |