Global Variome shared LOVD

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Phenotype #0000285429 Individual ID 00392151 Associated disease - Phenotype details best corrected visual acuity right/left eye: hand movement/hand movement, visual field: constricted <10deg both eyes, fundus: optic disc pallor, thin vessels, intraretinal pigment deposits, atrophy areas, optical coherence tomography: Severe atrophy, outer nuclear layer los Diagnosis/Initial rod-cone dystrophy Inheritance Unknown Diagnosis/Definite RPN-569 Age/Examination 38y (38 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 2021-11-21 15:43:04 +01:00 (CET) Date last edited N/A

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