Global Variome shared LOVD

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Phenotype #0000128121 Individual ID 00155738 Associated disease ? Diagnosis/Initial metabolic disorder Diagnosis/Definite - Phenotype details hyperammonemia, ketoacidosis, delayed speech; muscle biopsy normal histology and respiratory chain enzymes Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 04y10m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-03-25 11:04:45 +02:00 (CEST) Date last edited N/A

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