Global Variome shared LOVD

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Phenotype #0000142000 Individual ID 00179520 Associated disease JBTS Phenotype details Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Recurrent UTI Renal scarring bilaterally Thermoregulation problems; episode of transverse myelitis Diagnosis/Initial Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 21y (21 years) Age/Diagnosis 21y Age/Onset 00y06m Phenotype/Onset - Protein - Owner name John Sayer Database submission license Creative Commons Attribution 4.0 International Created by John Sayer Date created 2018-08-24 08:57:24 +02:00 (CEST) Date last edited 2018-08-24 09:28:21 +02:00 (CEST)

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