Phenotype #0000125246

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00102447
Associated disease	MDC
Phenotype details	decreased lung capacity (<70%FVC), contractures to severe contractures, MRI hydrocephalus later shuntedy; head control; wheelchair bound
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<7d
Phenotype/Onset	-
Protein	IHC LAMA2 ?
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2010-04-11 22:50:18 +02:00 (CEST)
Date last edited	2019-08-02 19:23:04 +02:00 (CEST)

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