Global Variome shared LOVD

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

Phenotype #0000317533 Individual ID 00426381 Associated disease - Phenotype details symptoms (age, years): night blindness: not available; visual field constriction: not available; visual acuity loss: not available; best corrected visual acuity right/left eye: 0.8/0.7; visual field: tubular; electroretinogram: scotopic: nonrecordable. photopic: response attenuation; fundus aspect: peripheral pigmentary changes; additional findings: photophobia. dyschromatopsia Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 37y (37 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 2022-11-29 14:39:27 +01:00 (CET) Date last edited N/A

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