Global Variome shared LOVD

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

Phenotype #0000345794 Individual ID 00110312 Associated disease AT Phenotype details see papers; ..., 12y-tremor, dysarthria; 46m-independent walking; telangiectasia; 32y-breast cancer; no respiratory disease; no immuno-deficiency Diagnosis/Initial tremor, dysarthria Inheritance Familial, autosomal recessive Diagnosis/Definite AT Age/Examination 46y (46 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset tremor, dysarthria Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2024-11-07 14:34:21 +01:00 (CET) Date last edited N/A

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