Global Variome shared LOVD

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

Phenotype #0000082234 Individual ID 00104293 Associated disease RSMD Phenotype details weak neck muscles infancy; WB SEPN1 faint; ambulant at 45y Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 32y Phenotype/Onset difficulty climbing stairs, excercise intolerance Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-09-19 21:01:10 +02:00 (CEST) Date last edited 2012-03-09 19:02:29 +01:00 (CET)

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