Phenotype #0000346356

Individual ID 00457906
Associated disease ALXDRD
Phenotype details no macrocephaly; no seizures; no spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; MRI brain typical with additional increased signal intensity bilaterally within cerebral peduncles, crossing fibers pons, dentate nuclei
Diagnosis/Initial Alexander disease, juvenile
Inheritance Unknown
Diagnosis/Definite ALXDRD
Age/Examination 13y9m (13 years, 9 months)
Age/Diagnosis -
Age/Onset 9y
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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