Phenotype #0000310079

Individual ID 00418782
Associated disease JBTS4
Phenotype details end-stage renal disease: 9y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Joubert syndrome
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-06 15:42:17 +02:00 (CEST)
Date last edited N/A

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