Global Variome shared LOVD

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Phenotype #0000299814 Individual ID 00407667 Associated disease - Phenotype details end-stage renal disease (years): 3, extra-renal manifestations: retinal dystrophy, hepatic fibrosis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis-related ciliopathy Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-07 15:22:18 +02:00 (CEST) Date last edited N/A

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