Global Variome shared LOVD

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Phenotype #0000301393 Individual ID 00409276 Associated disease - Phenotype details severely attenuated retinal vessels throughout the entire fundus; maculae of both eyes severely affected showing unusually prominent and deep macular colobomas devoid of neuroretinal tissue; electrophysiological responses of rod and cone photoreceptors: severely reduced; no light perception Diagnosis/Initial - Inheritance Familial, autosomal recessive 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 2022-05-06 11:44:59 +02:00 (CEST) Date last edited N/A

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