Phenotype #0000346324

Individual ID 00457874
Associated disease ALXDRD
Phenotype details <11y6m-chronic bed-wetting; 11y6m-scoliosis; no macrocephaly; no seizures; spasticity; no bulbar/pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical
Diagnosis/Initial Alexander disease, juvenile
Inheritance Isolated (sporadic)
Diagnosis/Definite ALXDRD
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset 11y6m
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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