3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (DOID:0110003)
Alliance: disease page
Synonyms: 3-methylglutaconic aciduria type 7; 3-methylglutaconic aciduria type VII; MEGCANN; MGA7; MGCA7
Alt IDs: OMIM:616271, ORDO:445038
Definition: A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.