Global Variome shared LOVD

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Phenotype #0000162037 Individual ID 00213583 Associated disease CMYO4A;CFTD Phenotype details moderate; 8.75y-facial weakness, ptosis, dysarthria, diffuse muscle weakness (especially axial), and lordosis; 8y-nocturnal bi-pap; walk-5y; never run; no intellectual disability Diagnosis/Initial fiber-type disproportion, congenital Inheritance Isolated (sporadic) Diagnosis/Definite CFTD Age/Examination - Age/Diagnosis - Age/Onset <0d Phenotype/Onset abnormal posture, gross motor delay Protein - Owner name Alan Beggs Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-06-17 17:15:26 +02:00 (CEST) Date last edited 2012-03-18 12:27:29 +01:00 (CET)

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