Phenotype #0000302365

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410260
Associated disease	MDDGA3;MEB;WWS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	muscle-eye-brain disease or severe Fukuyama congenital muscular dystrophy
Age/Examination	8y (8 years)
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	creatine kinase units/l (normal values in the range of 24-240): 1844; biopsy: not done
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-23 11:57:25 +02:00 (CEST)
Date last edited	N/A

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