Global Variome shared LOVD

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Phenotype #0000256885 Individual ID 00361481 Associated disease ? Diagnosis/Initial neuromuscular disease Diagnosis/Definite - Phenotype details see paper; ..., no intellectual disability/global developmental delay; speech delay; neuropathy (axonal); no ataxia; distal muscle atrophy; no hypotonia; no respiratory distress; tremor; no kyphosis/scoliosis Inheritance Isolated (sporadic) Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-07 10:15:22 +02:00 (CEST) Date last edited N/A

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