Global Variome shared LOVD

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

Phenotype #0000082294 Individual ID 00104362 Associated disease RSMD Phenotype details myopathic with multiminicores; 12y-scoliosis, rigid spine syndrome; 13y-proximal muscle weakness, slow progression, walk 1000m; 10y-ventilation 8-9h/night; FVC 9y 50.5% Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset lack of head control, motor devevelopment delay Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-02-22 18:29:25 +01:00 (CET) Date last edited 2012-03-09 18:27:00 +01:00 (CET)

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