Global Variome shared LOVD

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

Phenotype #0000359399 Individual ID 00474607 Associated disease ? Diagnosis/Initial - Diagnosis/Definite Ceroid lipofuscinosis type 8 Phenotype details developmental delay; intellectual disability; seizures; regression; cerebellar atrophy (Neurological) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-19 11:30:58 +01:00 (CET) Date last edited N/A

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