Global Variome shared LOVD

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

Phenotype #0000180281 Individual ID 00240127 Associated disease SCAR Phenotype details SARA score: 13; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Square wave jerks, horizontal ophtalmoparesis, mild microretrognathism, unilateral ptosis Diagnosis/Initial cerebellar ataxia plus Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR-8 Age/Examination 43y (43 years) Age/Diagnosis - Age/Onset 27y 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.