Term Name: 3-methylcrotonyl-CoA carboxylase 2 deficiency
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 )

Relationships
is a type of: 3-methylcrotonyl-CoA carboxylase deficiency