Global Variome shared LOVD

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

Phenotype #0000302840 Individual ID 00410749 Associated disease SCAR Phenotype details see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (3-4/day), ataxia, wheelchair-bound, dysmorphic Diagnosis/Initial spinocerebellar ataxia Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR23 Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset <12y 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 2022-05-30 11:57:20 +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.