Global Variome shared LOVD

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

Phenotype #0000233289 Individual ID 00307863 Associated disease CLN2 Phenotype details Seizures, Dystonia, Tremor, Absent speech, Global brain atrophy, Developmental regression, Loss of ability to walk in early childhood Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 05y Age/Onset 02y06m Phenotype/Onset - Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 00:11:31 +02:00 (CEST) Date last edited 2020-08-23 15:24:41 +02:00 (CEST)

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