Global Variome shared LOVD

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Phenotype #0000278417 Individual ID 00384627 Associated disease ? Diagnosis/Initial Syndromic retinitis pigmentosa Diagnosis/Definite Mixed Phenotype details Retinitis pigmentosa (?) and hearing loss (AD?) and cholestatic liver disease (AR) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-04 12:47:36 +02:00 (CEST) Date last edited N/A

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