Global Variome shared LOVD

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

Phenotype #0000321729 Individual ID 00431120 Associated disease NEM Phenotype details walk medium/long distance; climb stairs with unilateral support; neuromuscular disease swallowing status scale 8; orally fed, all kind food; night-time non-invasive ventilatory support; rigid spine; independent daily life activities Diagnosis/Initial nemaline myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 23y (23 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 2023-01-27 18:47:44 +01:00 (CET) Date last edited N/A

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