Global Variome shared LOVD

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Phenotype #0000304407 Individual ID 00412402 Associated disease - Phenotype details visual acuity right; left eye: 0.6,0.7; fundus change: optic papilla wax yellow, reduced foveal reflex, pigment bone spicule-like; electroretinogram, rod: undetectable, cone: undetectable Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset <8y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-27 22:34:38 +02:00 (CEST) Date last edited N/A

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