Global Variome shared LOVD

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Phenotype #0000256883 Individual ID 00361479 Associated disease ? Diagnosis/Initial neuromuscular disease Diagnosis/Definite IDDSAPN Phenotype details see paper; ..., no intellectual disability/global developmental delay; speech delay; no ataxia; no distal muscle atrophy; hypotonia; respiratory distress; no tremor; kyphosis/scoliosis Inheritance Isolated (sporadic) Age/Examination 6y4m (6 years, 4 months) Age/Diagnosis - Age/Onset 1y8m 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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