Phenotype #0000209394

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00274451
Associated disease	MD
Phenotype details	Delayed motor development, proximal muscle weakness and respiratory failure; muscle myopathic pattern with type 1 fiber predominance; CK 42 IU/L; ECG or echo normal; no family history
Diagnosis/Initial	muscular dystrophy
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	5y
Age/Onset	0y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-12-30 09:59:36 +01:00 (CET)
Date last edited	N/A

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