Global Variome shared LOVD

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

Phenotype #0000302287 Individual ID 00410183 Associated disease CLN3 Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite lipofuscinosis, ceroid, neuronal, type 3 (CLN3) Age/Diagnosis - Age/Onset 7y Phenotype/Onset visual impairment Phenotype details visual failure starting at the age of 7 years leading to complete blindness at the age of twelve years, seizures, mental deterioration, aggressive behavior, moderate intellectual disability, progressive inability to walk Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-19 18:00:19 +02:00 (CEST) Date last edited N/A

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