Phenotype #0000125012

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00102121
Associated disease	MDC
Phenotype details	dystrophy, muscular, congenital; muscle weakness, hypotonia; 4y-contractures, no seizures; CPK: 2000 U/L; s10m
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	floppy infant, pectus excavatum
Protein	IHC LAMA2 partially absent
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2007-10-08 08:33:42 +02:00 (CEST)
Date last edited	2019-08-02 19:23:04 +02:00 (CEST)

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