Global Variome shared LOVD

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

Phenotype #0000233321 Individual ID 00307898 Associated disease CLN5 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 09y03m Age/Onset 06y Phenotype/Onset - Phenotype details Blindness, Intellectual disability, Ataxia, Spasticity, Gait disturbance, Skeletal muscle atrophy, Demyelinating peripheral neuropathy Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 16:11:02 +02:00 (CEST) Date last edited 2020-08-23 15:25:03 +02:00 (CEST)

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