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3-methylglutaconic aciduria type 7b
Summary
- Definition
- A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.
- Super Class
- 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
External Links
- Disease Ontology
- DOID:0081134
- Mondo Disease Ontology
- OMIM
