Global Variome shared LOVD

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

Phenotype #0000180273 Individual ID 00240119 Associated disease SCAR Phenotype details SARA score: 28; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; no dysfunction lower motor neuron; Slow saccade initiation, horizontal ophtalmoparesis, facial myokymia; MRI cerebellar atrophy Diagnosis/Initial cerebellar ataxia plus Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR-8 Age/Examination 49y (49 years) Age/Diagnosis - Age/Onset 10y 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 2019-06-11 13:42:08 +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.