Phenotype #0000346309

Individual ID 00457861
Associated disease ALXDRD
Phenotype details see paper; ..., 8y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation
Diagnosis/Initial Alexander disease
Inheritance Isolated (sporadic)
Diagnosis/Definite ALXDRD
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset 3m
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 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.
  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.