Global Variome shared LOVD

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Phenotype #0000162014 Individual ID 00213560 Associated disease CMYO4A;CFTD Phenotype details mild; 18y-myopathic facies, scoliosis, fatigue, difficulty with weight gain, finger/heel cord contractures, mild to moderate weakness of axial/proximal muscles; neck flexors and axial muscles particularly weak; 12y-nocturnal bipap; occasional difficulty chewing and swallowing; walk-18m; able to run; no intellectual disability Diagnosis/Initial fiber-type disproportion, congenital Inheritance Isolated (sporadic) Diagnosis/Definite CFTD Age/Examination - Age/Diagnosis - Age/Onset <1m Phenotype/Onset hypotonia, delayed motor milestones, joint laxity 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 17:31:33 +02:00 (CEST) Date last edited 2017-03-31 14:13:45 +02:00 (CEST)

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