Phenotype #0000346297

Individual ID 00457849
Associated disease ALXDRD
Phenotype details see paper; ..., 2.5y-deceased; progressive megalencephaly, OFC SD+4; 4m-delayed psychomotor development; 8m-psychomotor degradation; severe seizures (refractory); MRI rostrocaudal gradient abnormal white matter signal; Rosenthal fibers; feeding difficulties; respiratory difficulties; hydrocephalus; neuropathology
Diagnosis/Initial infantile disease Alexander disease
Inheritance Unknown
Diagnosis/Definite ALXDRD
Age/Examination 2.5y
Age/Diagnosis -
Age/Onset 4m
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 12:59:57 +01:00 (CET)
Date last edited N/A

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