Global Variome shared LOVD

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

Phenotype #0000066802 Individual ID 00087265 Associated disease RS1 Phenotype details mild-moderate, typical X-linked juvenile retinoschisis, majority patients history of visual impairment appearing in early infancy; one patient had congenital nystagmus; visual acuity primarily 0.9-0.2, little-no deterioration through- out life Diagnosis/Initial retinoschisis Inheritance Familial, X-linked recessive Diagnosis/Definite RS1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-01-22 12:32:06 +01:00 (CET) Date last edited 2021-12-10 17:27:06 +01:00 (CET)

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