Phenotype #0000358156

Individual ID 00473361
Associated disease leukodystrophy
Diagnosis/Initial leukodystrophy
Diagnosis/Definite -
Phenotype details Consanguineous parents ,sporadic case, onset 6y, lower and upper muscle weakness, foot drop , dysarthria, bulbar dysfunction, distal atrophy, gait abnormality, irritability and aggression, EDX normal report with central weakness impression , leuckodystrophy with thalamic involvement and mcp involvement reported in brain MRI
Inheritance Unknown
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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