Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000023256 Individual ID 00027185 Associated disease CNM Phenotype details severe hypotonia since birth; needed tracheostomy; 24 hr mechanical ventilation; gastrostomy; dilated cardiomyopathy; congestive cardiac failure in neonatal age was treated with digoxin and captopril; hypotrophic myofibers, marked increase in central nuclei Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-12-24 13:23:32 +01:00 (CET) Date last edited N/A

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