Global Variome shared LOVD

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Phenotype #0000268979 Individual ID 00373756 Associated disease - Phenotype details Normal (8y); blind; cerebellar ataxia; mental retardation; molar tooth sign; HD, convulsions Diagnosis/Initial Joubert Syndrome / Nephronophthisis Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Julia Lopez Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-05-19 21:57:41 +02:00 (CEST) Date last edited N/A

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