Global Variome shared LOVD

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

Phenotype #0000346321 Individual ID 00457871 Associated disease ALXDRD Phenotype details no macrocephaly; seizures; no spasticity; no bulbar/pseudobulbar signs; no ataxia; cognitive defect; MRI brain typical Diagnosis/Initial Alexander disease, juvenile Inheritance Unknown Diagnosis/Definite ALXDRD Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 6y 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 19:58:24 +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.