Phenotype #0000346353

Individual ID 00457903
Associated disease ALXDRD
Phenotype details no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from biopsy; MRI brain typical
Diagnosis/Initial Alexander disease, juvenile
Inheritance Unknown
Diagnosis/Definite ALXDRD
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset 10y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.