Global Variome shared LOVD

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

Phenotype #0000357754 Individual ID 00472959 Associated disease neuropathy Diagnosis/Initial hereditary neuropathy Diagnosis/Definite - Phenotype details Muscle weakness; Respiratory distress and Muscular hypotonia. EMG-NCV finding is compatible with axonal type sensorimotor poly neuropathy Inheritance Familial, autosomal recessive Age/Examination 2m 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 (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.