Phenotype #0000357609

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00472814
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	OTC
Phenotype details	see paper; , no mucle weakness; no dilated cardiomyopathy; normal CK level 50–142 U/L
Inheritance	Familial, X-linked recessive
Age/Examination	60y-69y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-01 15:35:06 +01:00 (CET)
Date last edited	N/A

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