Global Variome shared LOVD

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

Phenotype #0000233322 Individual ID 00307899 Associated disease CLN5 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 06y Age/Onset - Phenotype/Onset - Phenotype details Abnormal electroretinogram, Intellectual disability, Seizures, Mental deterioration, Cerebellar atrophy, Hypertonia, Gait disturbance, Myoclonus, Generalized tonic-clonic seizures, Frequent falls, Abnormal muscle tone, Cognitive impairment Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 16:16:00 +02:00 (CEST) Date last edited 2020-08-23 15:24:50 +02:00 (CEST)

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