Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357606 Individual ID 00472811 Associated disease ? Diagnosis/Initial learning disability Diagnosis/Definite OTC Phenotype details see paper; ..., issues with fine motor skills; learning disability; muscle pain, fatigue with physical activity, normal neuromuscular exam; no dilated cardiomyopathy; 14y-CK level 68–920 U/L during OTC crisis, later 133–182 U/L (247) Inheritance Familial, X-linked recessive Age/Examination 10y-19y 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 2026-03-01 14:48:13 +01:00 (CET) Date last edited N/A

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