Global Variome shared LOVD

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

Phenotype #0000156941 Individual ID 00208348 Associated disease ? Diagnosis/Initial Cerebellar Ataxia; Mental Retardation Diagnosis/Definite - Phenotype details 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia, cMRI Cerebellar Vermian Atrophy Inheritance Unknown Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-07-04 16:19:02 +02:00 (CEST) Date last edited 2011-05-27 14:45:36 +02:00 (CEST)

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