Global Variome shared LOVD

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Phenotype #0000358533 Individual ID 00473738 Associated disease CMT Phenotype details Frequent falls; Difficulty walking; Difficulty running; Difficulty climbing stairs; Distal muscle weakness; Diffuse muscle wasting; Joint laxity; Claw hands; Tremor; Postural deformity of ankles; Foot drop; Abnormal gait (based on HPO nomenclature). EMG-NCV: compatible with chronic & severe demyelinating sensorimotor polyneuropathy Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 35y (35 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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