Global Variome shared LOVD

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

Phenotype #0000308277 Individual ID 00416557 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/25, 20/63, refraction: plano/-0.75 x 113 deg, plano/-1.0 x 71 deg, further ophthalmic findings: glaucoma and pseudophakia, systemic features: hypertonia, electroretinogram: scotopic: extinguished, photopic: extinguished Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination >45y (later than 45 years) Age/Diagnosis - Age/Onset <15y Phenotype/Onset nyctalopia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-05 13:13:43 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.