(Q27677579)

English

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13

  • MEGCANN
  • 3-methylglutaconic aciduria type 7
  • 3-methylglutaconic aciduria type VII
  • MGA7
  • MGCA7
  • 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN
  • 3-Methylglutaconic Aciduria, Type 7
  • 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA
  • 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome

Statements

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