Global Variome shared LOVD

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Phenotype #0000301484 Individual ID 00409367 Associated disease - Phenotype details fundus and infrared images of both eyes: numerous tiny glittering crystals at the posterior pole of the fundus with differing extent of atrophy of the retinal pigment epithelium Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 29y (29 years) 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 2022-05-07 07:36:56 +02:00 (CEST) Date last edited 2022-05-07 10:52:36 +02:00 (CEST)

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