Global Variome shared LOVD

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Phenotype #0000351965 Individual ID 00466601 Associated disease - Phenotype details see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; kyphoscolios, pectus carinatum; wheelchair bound; cerebellar atrophy; atxia Diagnosis/Initial peripheral neuropathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 21y-30y Age/Diagnosis - Age/Onset 00y-05y Phenotype/Onset delayed walking Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-17 18:34:31 +02:00 (CEST) Date last edited N/A

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