Global Variome shared LOVD

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

Phenotype #0000233290 Individual ID 00307864 Associated disease CLN2 Phenotype details Ataxia, Cerebellar hypoplasia, Generalized-onset seizure, Developmental regression, Generalized myoclonic seizures, Seizures Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 04y01m Age/Onset 03y Phenotype/Onset - Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 00:16:11 +02:00 (CEST) Date last edited 2020-08-23 15:28:56 +02:00 (CEST)

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