Global Variome shared LOVD

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Phenotype #0000293247 Individual ID 00400207 Associated disease - Phenotype details Onset age for nigh blindness: 28, deafness: none, no vestibular defect, best corrected visual acuity (right/left eye): 0.8/ 0.8, full-field electroretinogram: severely reduced rod and cone, optical coherence tomography: preserved ellipsoid zone at macula Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset 28y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-25 14:55:33 +01:00 (CET) Date last edited N/A

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