Global Variome shared LOVD

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Phenotype #0000307114 Individual ID 00415317 Associated disease - Phenotype details initial symptoms: generalized seizures; cognitive retardation (age of onset): 9y; visual impairment (age of onset): 8y; ataxia/gait impairment (age of onset): 9y; wheelchair bound (age): 14y; electroretinogram (age): nd; brain imaging (age): computer tomopgraphy-cerebellar atrophy and mild cerebral atrophy; electron microscopic examination of cortical neurons: rectilinear, curvilinear, granular osmiophilic deposits (brain cortex) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite variant late infantile neuronal ceroid lipofuscinosis Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-11 15:01:33 +02:00 (CEST) Date last edited N/A

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