Phenotype #0000346340

Individual ID 00457890
Associated disease ALXDRD
Phenotype details macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; pathology from biopsy; MRI brain atypical
Diagnosis/Initial Alexander disease, juvenile
Inheritance Isolated (sporadic)
Diagnosis/Definite ALXDRD
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset 2y
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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