Version: 8.0.0
Date: Tue Jan 28 2025
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
DOID:0110003
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

Definition
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
Synonyms
  • 3-methylglutaconic aciduria type 7
  • 3-methylglutaconic aciduria type VII
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