Global Variome shared LOVD

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

Phenotype #0000233315 Individual ID 00307892 Associated disease CLN5 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 11y Age/Onset - Phenotype/Onset - Phenotype details Visual impairment, Seizures, Ataxia, Muscular hypotonia, Global developmental delay, Neurodegeneration Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 09:19:57 +02:00 (CEST) Date last edited 2020-08-23 15:28:29 +02:00 (CEST)

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