Global Variome shared LOVD

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

Phenotype #0000307113 Individual ID 00415316 Associated disease - Phenotype details initial symptoms: febrile convulsion; cognitive retardation (age of onset): 9y; visual impairment (age of onset): 8y; ataxia/gait impairment (age of onset): 8y; wheelchair bound (age): 14y; electroretinogram (age): moderate reduction (7y); brain imaging (age): computer tomopgraphy -cerebellar atrophy (12y); electron microscopic examination of cortical neurons: fingerprint (rectal mucosa) 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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