Global Variome shared LOVD

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

Phenotype #0000345796 Individual ID 00110113 Associated disease AT Phenotype details see papers; ..., 4y-choreo-athetosis; 44m-independent walking; no telangiectasia; no malignancy; no respiratory disease; no immuno-deficiency Diagnosis/Initial choreo-athetosis Inheritance Familial, autosomal recessive Diagnosis/Definite AT Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset 04y Phenotype/Onset choreo-athetosis Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2024-11-07 14:41:23 +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.