Global Variome shared LOVD

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Phenotype #0000233287 Individual ID 00307861 Associated disease CLN2 Phenotype details Nystagmus, Seizures, Global developmental delay, Fever, Abnormality of the cerebral white matter, Arachnoid cyst Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 05y03m Age/Onset 04y01m Phenotype/Onset - Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 00:01:55 +02:00 (CEST) Date last edited 2020-08-23 15:24:23 +02:00 (CEST)

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