Global Variome shared LOVD

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Phenotype #0000352242 Individual ID 00466879 Associated disease JBTS5 Phenotype details Nystagmus, reduced visual acuity, molar tooth sigh on brain MRI Diagnosis/Initial Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite JBTS5 Age/Examination 00y03m (3 months) Age/Diagnosis 00y03m Age/Onset 00y03m Phenotype/Onset - Protein - Owner name John Sayer Database submission license Creative Commons Attribution 4.0 International Created by John Sayer Date created 2025-09-30 08:49:44 +02:00 (CEST) Date last edited 2025-10-07 16:27:42 +02:00 (CEST)

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