Global Variome shared LOVD

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Phenotype #0000351851 Individual ID 00466488 Associated disease MYOP Phenotype details see paper; ..., 1y10m-acute ataxia, spontaneously regressed within 2d; elevated CK value (10,000 U/l); 2y8m-bilateral enlarged calf muscles, normal tendon reflexes, grossly normal muscle strength, no Gower's sign, normal ability to climb stairs Diagnosis/Initial ataxia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-08 15:05:31 +02:00 (CEST) Date last edited N/A

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