Global Variome shared LOVD

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Phenotype #0000358776 Individual ID 00473981 Associated disease HMSN Phenotype details Hypotonia since 5-mo; Febrile seizures 2.5y, Delayed walking; Facial muscle weakness; Generalized muscle weakness & atrophy, lower & upper; Scoliosis; Steppage gait; Foot drop; Areflexia; Wheelchair bound; Echocardiography: mild MVP & TR; EMG-NCV: demyelinating sensorimotor peripheral neuropathy; Mildly abnormal EEG. Diagnosis/Initial hereditary motor and sensory neuropathy Inheritance Unknown Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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