DISEASES

Disease-gene associations mined from literature

Human genes for 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [DOID:0110003]

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 with cataracts, neurologic involvement and neutropenia,  3methylglutaconic aciduria with cataracts neurologic involvement and neutropenia,  DOID:0110003,  neurologic involvement and neutropenia 3-methylglutaconic aciduria with cataracts,  3-methylglutaconic aciduria type 7 ...