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3-methylglutaconic aciduria type 7a
Summary
- 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.
- Super Class
- 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081133
- Mondo Disease Ontology
- OMIM
