Global Variome shared LOVD

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Phenotype #0000304769 Individual ID 00412778 Associated disease - Phenotype details whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa 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 2022-07-04 14:49:05 +02:00 (CEST) Date last edited N/A

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