Global Variome shared LOVD

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

Phenotype #0000326920 Individual ID 00436837 Associated disease JBTS6 Phenotype details HP:0001252 HP:0001251 HP:0011933 HP:0000657 HP:0001249 Diagnosis/Initial Hereditary neuropathy Inheritance Unknown Diagnosis/Definite Joubert syndrome 6 (OMIM: 610688) Age/Examination 28y? (approximately 28 years) Age/Diagnosis 28y Age/Onset ? Phenotype/Onset - Protein - Owner name Hyeongmin Kim Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Hyeongmin Kim Date created 2023-10-11 07:29:51 +02:00 (CEST) Date last edited 2023-10-11 14:18:37 +02:00 (CEST)

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