Term Name: | 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
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Synonyms: | 3-methylglutaconic aciduria type 7, 3-methylglutaconic aciduria type VII, MEGCANN, MGA7, MGCA7 |
Definition: | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. |
Ontology: | Human Disease [DOID:0110003] ( DOID:0110003 ) |