Global Variome shared LOVD

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Phenotype #0000325858 Individual ID 00435674 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 IV/distal V; high arched palate, elongated face, pes arcuatus; CK level 117U/L Inheritance Familial, autosomal recessive Age/Examination 28y (28 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 10:24:03 +02:00 (CEST)

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