Global Variome shared LOVD

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

Phenotype #0000344153 Individual ID 00455619 Associated disease CLN7 Phenotype details HP:0000750 (present);HP:0001272 (present);HP:0030891 (present);HP:0002353 (present);HP:0002312 (present);HP:0006887 (present);HP:0001251 (present) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 16y Age/Onset 08y Phenotype/Onset HP:0010818 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 21:14:46 +02:00 (CEST) Date last edited 2024-10-18 13:11:08 +02:00 (CEST)

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