Global Variome shared LOVD

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

Phenotype #0000346301 Individual ID 00457853 Associated disease ALXDRD Phenotype details see paper; ..., 48y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation Diagnosis/Initial Alexander disease Inheritance Unknown Diagnosis/Definite ALXDRD Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset 10y 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 2024-11-20 14:57:20 +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.