Global Variome shared LOVD

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Phenotype #0000281529 Individual ID 00387974 Associated disease - Phenotype details see paper; ..., childhood onset, nyctalopia; lens within normal limits; optic disc within normal limits; mild vascular attenuation; no intraretinal cystoid spaces; no intraretinal pigment migration; visual field constriction 10° centrally; ffERG attenuated rod and maximal responses, reduced photopic responses Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP45 Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-01 10:27:24 +01:00 (CET) Date last edited N/A

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