Phenotype #0000346399

Individual ID 00457949
Associated disease ALXDRD
Phenotype details see paper; ..., bulbar signs, sleep disturbance (mainly sleep apnea), symptoms of dysautonomia, dysmorphism; MRI brain younger patients T2 signal abnormalities medulla (area of demyelination), older patients marked atrophy medulla, no signal abnormalities
Diagnosis/Initial adult Alexander's disease
Inheritance Familial, autosomal dominant
Diagnosis/Definite ALXDRD
Age/Examination -
Age/Diagnosis -
Age/Onset -
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 2024-11-21 19:52:23 +01:00 (CET)
Date last edited N/A

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