Global Variome shared LOVD

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Phenotype #0000332850 Individual ID 00443516 Associated disease JBTS Phenotype details see paper; ..., 7y-end-stage renal disease, nephronophthisis, cerebellar ataxia, severe intellectual disability, oculomotor apraxia, ptosis, molar tooth sign, scoliosis Diagnosis/Initial cerebello-oculo-renal syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite JBTS7 Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-28 16:35:18 +01:00 (CET) Date last edited 2023-11-28 17:12:57 +01:00 (CET)

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