Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000358475 Individual ID 00473680 Associated disease leukodystrophy Diagnosis/Initial leukodystrophy Diagnosis/Definite - Phenotype details Hypotonia; Development regression; Mental retardation, severe; Strabismus; Ptosis, bilateral; No speech; Cloudy cornea; Positive history of hospitalization due to fever and leucopenia. Brain MRI showed prominence of lateral and 3th ventricles hypersignal probably due to periventricular leukoencephalopathy. Decreased serum arylsulphatase A Inheritance Unknown Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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