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Results 1 - 1 of 1 for "3-methylglutaconic" aciduria with "cataracts," neurologic "involvement," neutropenia
  1. CLPB deficiency 
    ... methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome MEGCANN MGA7 MGCA7 Genetic Testing Registry: 3- ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics