Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000358194 Individual ID 00473399 Associated disease CMT Phenotype details Frequent falls since childhood; Footdrop; Abnormal gait; Muscle weakness, lower>upper limbs, distal>proximal; Pes cavus; Gowers sign; Wheelchair-bound; EMG: chronic axonal M>S polyneuropathy Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite - Age/Examination 32y (32 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

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.