Global Variome shared LOVD

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Phenotype #0000290564 Individual ID 00397430 Associated disease - Phenotype details hypotonia/ataxia, psychomotor delay, intellectual disability, oculomotor apraxia, breathing abnormalities, no nystagmus, retinitis pigmentosa, visus reduction, molar tooth sign on brain MRI, kidney ultrasound normal, nephronophthisis / urine concentration defect Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-12-21 13:17:59 +01:00 (CET) Date last edited N/A

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