Global Variome shared LOVD

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Phenotype #0000228468 Individual ID 00301199 Associated disease ? Diagnosis/Initial hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly Diagnosis/Definite - Phenotype details retinitis pigmentosa, hepatic fibrosis, postaxial hexadactyly both hands and right foot, bicuspid aortic valve, normal kidney Inheritance Isolated (sporadic) Age/Examination 5y (5 years) Age/Diagnosis 5y Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-08 19:14:39 +02:00 (CEST) Date last edited N/A

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