Global Variome shared LOVD

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Phenotype #0000355099 Individual ID 00469954 Associated disease ? Diagnosis/Initial Joubert syndrome Diagnosis/Definite - Phenotype details infantile hypotonia; abnormal breathing; 24m-sit; 6y-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; moderate intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no Vermian split; no displaced fastigium Inheritance Familial Age/Examination 05y-10y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Valentina Serpieri Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-22 15:57:28 +02:00 (CEST) Date last edited N/A

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