3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
From BugSigDB
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
- Aliases
- 3-methylglutaconic aciduria type 7
- 3-methylglutaconic aciduria type VII
- MEGCANN
- MGA7
- MGCA7
