Global Variome shared LOVD

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Phenotype #0000325859 Individual ID 00435675 Associated disease MYOP Diagnosis/Initial lower limbs weakness Diagnosis/Definite - Phenotype details see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal III/distal III; high arched palate, elongated face; CK level 115U/L Inheritance Familial, autosomal recessive Age/Examination 30y (30 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 2023-08-09 09:56:20 +02:00 (CEST) Date last edited 2023-08-09 10:24:22 +02:00 (CEST)

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