Global Variome shared LOVD

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Phenotype #0000359455 Individual ID 00474663 Associated disease NDD Diagnosis/Initial peripheral neuropathy Diagnosis/Definite NMAN Phenotype details see paper; ..., abnormal without aids; pes planus, short Achille's tendons; no scoliosis; no deep tendon reflexes; Abnormal; no myotonia; hypersudation; ataxia; axonal motor neuropathy; no neuromyotonia; neurodevelopmental disorder, intellectual disability; no psychiatric disorder; MRI brain normal Inheritance Familial, autosomal recessive Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset 7y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-19 16:27:05 +01:00 (CET) Date last edited N/A

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