Term Name: | 3-methylglutaconic aciduria type 7a |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081133] ( DOID:0081133 ) |