Global Variome shared LOVD

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

Phenotype #0000351959 Individual ID 00466595 Associated disease - Phenotype details see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; pess planus; walks (unstable); ataxia; MRI brain normal; growth hormone deficiency; demyelinating sensorimotor pattern, secondary axonal degeneration Diagnosis/Initial peripheral neuropathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 01y-10y Age/Diagnosis - Age/Onset 00y-05y Phenotype/Onset delayed unsupported sitting Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-17 18:34:31 +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.