Global Variome shared LOVD

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Phenotype #0000310080 Individual ID 00418783 Associated disease JBTS4 Phenotype details end-stage renal disease: creatinine 3 mg%; HD/TX: no/no; urine osmolality: low; kidney size: small/hyperechoic Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-10-06 15:42:17 +02:00 (CEST) Date last edited N/A

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