Global Variome shared LOVD

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

Phenotype #0000256865 Individual ID 00361460 Associated disease ? Diagnosis/Initial polyneuropathy Diagnosis/Definite - Phenotype details delayed motor milestones, 4y-walk; 3y-delayed speech development; moderate intellectual disability; normal eye movements; dysarthria; no scoliosis; MRI head cerebral atrophy (bilateral) Inheritance Familial, autosomal recessive Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-07 09:00:28 +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.