Phenotype #0000161964

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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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