Global Variome shared LOVD

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Phenotype #0000302118 Individual ID 00410009 Associated disease - Phenotype details onset of night blindness (years): 48, onset of visual field loss (years): 44; visual field: concentric loss both eyes (55); best corrected visual acuity right/left eye: < 0.1 / 0.3 (55); electroretinogram: no register (60); fundus: typical of RP with macular affectation (68) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 71y (71 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein upregulation of RHO promoter by p.M96T protein similar to that shown by other missense NRL mutations that cause adRP Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-17 15:02:13 +02:00 (CEST) Date last edited N/A

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