Term Name: 3-methylglutaconic aciduria type 7a
Synonyms: MGCA7A
Definition: A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13.4.
Ontology: Human Disease [DOID:0081133]   ( DOID:0081133 )

Relationships
is a type of: 3-methylglutaconic aciduria type 7 autosomal dominant disease