Phenotype #0000027470

Individual ID 00019502
Associated disease MLD
Phenotype details 9.5y-neurological examination minimal signs of diffuse encephalopathy, minimal distally accentuated polyneuropathy; 12.5y-neurological findings entirely normal, excellent school reports, computerized tomography/nuclear magnetic resonance/nerve conduction velocity normal (11y and 12.2y); GS 137 nmoles/mg lipid (normal=2+/-1)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 05y (5 years)
Age/Onset -
Age/Diagnosis -
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 2015-03-13 16:18:25 +01:00 (CET)
Date last edited 2015-03-13 16:18:53 +01:00 (CET)

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