Term Name: 3-methylglutaconic aciduria type 7b
Synonyms:
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.
Ontology: Human Disease [DOID:0081134]   ( DOID:0081134 )

Relationships
is a type of: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia