Global Variome shared LOVD

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Phenotype #0000357672 Individual ID 00472876 Associated disease ? Diagnosis/Initial hyperammonemia Diagnosis/Definite OTCD Phenotype details see paper; ..., altered mental status, 39y-severe hyperammonemia; possibly affected deceased brother Inheritance Familial, X-linked recessive Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset - 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 2026-03-02 15:53:23 +01:00 (CET) Date last edited N/A

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