Phenotype #0000346313

Individual ID 00457863
Associated disease ALXDRD
Phenotype details no macrocephaly; no seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from biopsy/autopsy; MRI brain atypical
Diagnosis/Initial Alexander disease, adult
Inheritance Unknown
Diagnosis/Definite ALXDRD
Age/Examination 43y (43 years)
Age/Diagnosis -
Age/Onset 21y
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

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