Phenotype #0000351844

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466481
Associated disease	hCK
Phenotype details	see paper; 5y- incidental raised CK (5175 U/L); 5y-calf hypertrophy, ambulant, no positive Gowers sign; poor weight gain; ECG heart right side enlargement, mild pericardial infusion; 10y-extrapyramidal signs; delayed speech
Diagnosis/Initial	incidental elevated CK
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MPXPS
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	05y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-08 13:50:55 +02:00 (CEST)
Date last edited	N/A

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