Global Variome shared LOVD

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

Phenotype #0000344150 Individual ID 00455616 Associated disease CLN7 Phenotype details HP:0003678 (present);HP:0000572 (present);HP:0002180 (present);HP:0002353 (present);HP:0002373 (present);HP:0000708 (present);HP:0000752 (present);HP:0001249 (present);HP:0030891 (present);HP:0007207 (present);HP:0011147 (present);HP:0001336 (present) (present);HP:0011813 (present);HP:0002059 (present) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 04y Age/Onset 03y Phenotype/Onset HP:0000750;HP:0001249;HP:0000708 Protein - Owner name Favio Pesaola Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Favio Pesaola Date created 2024-10-12 20:38:11 +02:00 (CEST) Date last edited 2024-10-18 13:14:10 +02:00 (CEST)

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