3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.
Also appears inpride
Exact Synonyms
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type VII
MEGCANN
MGA7
MGCA7
class Information
term editor
Hannah McLaren
class Relations
Subclass of