Global Variome shared LOVD

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Phenotype #0000351962 Individual ID 00466598 Associated disease - Phenotype details see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pes planus, hammer toes; independent wheelchair transfers; no central nervus system involvement; MRI brain suggestive of chronic small vessel ischemic gliosis; short stature; absent lateral antebrachial cutaneous sensory nerve action potential, blink reflexes 19.2 msec Diagnosis/Initial peripheral neuropathy Inheritance Unknown Diagnosis/Definite - Age/Examination 51y-16y Age/Diagnosis - Age/Onset 00y-05y Phenotype/Onset gait difficulty 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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