Global Variome shared LOVD

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Phenotype #0000254692 Individual ID 00359451 Associated disease SRTD Diagnosis/Initial Jeune syndrome Diagnosis/Definite - Phenotype details see paper; ..., ciliopathy Inheritance Familial, autosomal recessive Age/Examination 00y10m (10 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Cynthia Silveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-03-22 12:01:49 +01:00 (CET) Date last edited 2026-06-04 18:54:38 +02:00 (CEST)

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