Phenotype #0000350303

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00464241
Associated disease	MD
Phenotype details	see paper; ..., no hospitalisation neonatal pathology; delayed motor development; large joint contractures; lost ambulation; creatine kinase level 48 U/L;
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDC1A
Age/Examination	-
Age/Diagnosis	38y
Age/Onset	21d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-24 19:36:55 +01:00 (CET)
Date last edited	2025-02-24 19:45:44 +01:00 (CET)

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