Global Variome shared LOVD

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

Phenotype #0000166393 Individual ID 00217943 Associated disease ? Diagnosis/Initial congenital neuromuscular disease with uniform type 1 fiber Diagnosis/Definite CCD Phenotype details Uniform type 1 fiber (99.9%); CPK not elevated (-HP:0003236); no intellectual disability (-HP:0001249) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset Poor sucking Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-12-20 16:44:48 +01:00 (CET) Date last edited 2012-03-09 19:18:58 +01:00 (CET)

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