Global Variome shared LOVD

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Phenotype #0000357671 Individual ID 00472875 Associated disease OTCD Phenotype details see paper; ..., 5y-unusual behaviours, intermittent vomiting, lethargy., no significant antenatal/perinatal history; mildly elevated ammonia levels; 17y-liver transplantation Diagnosis/Initial late-onset ornithine carbamoyltransferase deficiency Inheritance Familial, X-linked recessive Diagnosis/Definite OTCD Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - 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 15:41:27 +01:00 (CET) Date last edited N/A

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