Global Variome shared LOVD

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

Phenotype #0000223960 Individual ID 00296553 Associated disease neuropathy Diagnosis/Initial neuropathy Diagnosis/Definite CMT2D;HMN5A Phenotype details typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties Inheritance Familial, autosomal dominant Age/Examination - 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 2020-04-08 10:03:13 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.