Phenotype #0000307112

Individual ID 00415315
Associated disease -
Phenotype details initial symptoms: focal and generalized seizures; cognitive retardation (age of onset): 9y; visual impairment (age of onset): 8y; ataxia/gait impairment (age of onset): 9y; wheelchair bound (age): 12y; electroretinogram (age): moderate reduction (8y); brain imaging (age): magnetic resonance imaging -moderate cerebral and severe cerebellar atrophy (8y); 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 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-11 15:01:33 +02:00 (CEST)
Date last edited N/A

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