Global Variome shared LOVD

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

Phenotype #0000362748 Individual ID 00478228 Associated disease - Phenotype details cerebellar ataxia; cerebellar atrophy; dysarthria, intellectual diability;seizures; saccadic pursuit Diagnosis/Initial respiratory chain deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR10 Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset 5y 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 2026-05-04 14:23:03 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.