Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000285440 Individual ID 00392162 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.8/0.8, visual field: constricted, fundus: RPE atrophy, fundus autofluorescence: hyperautofluorescence macular ring, optical coherence tomography: paracentral thinning, center spared Diagnosis/Initial rod-cone dystrophy Inheritance Unknown Diagnosis/Definite RPN-432 Age/Examination 17y (17 years) Age/Diagnosis 9y 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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