Global Variome shared LOVD

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Phenotype #0000246735 Individual ID 00328509 Associated disease - Phenotype details retinal dystrophy (HP:0000556), sensorineural hearing impairment (HP:0000407) Diagnosis/Initial retinal dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-01-28 09:35:56 +01:00 (CET) Date last edited N/A

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