Global Variome shared LOVD

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

Phenotype #0000357871 Individual ID 00473076 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details onset 7y , frequent falling, muscle weakness (distal more than proximal) ,lower more than upper extrimities involved , pes cavus ,compatible with chronic axonal motor neuropathy,dHMNand myopathy excluded (reported in EMG/NCV),negative for SMN screening (suspected to SMA typeIII). Inheritance Unknown Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - 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 2026-03-06 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.