Global Variome shared LOVD

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Phenotype #0000285437 Individual ID 00392159 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin Diagnosis/Initial rod-cone dystrophy Inheritance Unknown Diagnosis/Definite RPN-300 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 2021-11-21 15:43:04 +01:00 (CET) Date last edited N/A

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