Global Variome shared LOVD

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Phenotype #0000162036 Individual ID 00213582 Associated disease CMYO4A;CFTD Phenotype details retrospectively recalls: always slow runner, poor strength, history of myalgia with exertion and distal parathesias; 33y-remature ventricular contractions; 39y-ptosis, myopathic facies, diffuse mild weakness; occasional difficulty with chewing and swallowing; slow feeder, no known respiratory issues; walk-39y; no intellectual disability Diagnosis/Initial fiber-type disproportion, congenital Inheritance Unknown Diagnosis/Definite CFTD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alan Beggs Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-08-28 15:19:51 +02:00 (CEST) Date last edited 2012-03-18 11:23:25 +01:00 (CET)

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