Phenotype #0000351845

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466482
Associated disease	hCK
Phenotype details	see paper; ..., elevated level CK (3442 U/L), AST (136 U/L), ALT (73 U/L), LDH (799 U/L); EMG/NCV normal; speech delay
Diagnosis/Initial	raised CK
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MPXPS
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-08 13:56:34 +02:00 (CEST)
Date last edited	N/A

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