Phenotype #0000161964

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213505
Associated disease	NEM
Phenotype details	CAP disease; congenital muscle weakness, myopathic facies, dysarthria, hyperlordosis, hypotonia; 33y acute respiratory insufficiency, hypoventilation, nosocomial pneumonia; walk-24m
Diagnosis/Initial	nemaline myopathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	NEM-4
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2008-09-27 18:47:51 +02:00 (CEST)
Date last edited	2012-03-09 19:08:25 +01:00 (CET)

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