Global Variome shared LOVD

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

Phenotype #0000293250 Individual ID 00400210 Associated disease - Phenotype details Onset age for nigh blindness: 7, deafness: none, no vestibular defect, best corrected visual acuity (right/left eye): 0.1/HM, full-field electroretinogram: extinguished rod and cone, optical coherence tomography: absent outer retina layers with severely thinning of the retina; left eye: macular coloboma Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 7y Phenotype/Onset poor vision 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

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