Global Variome shared LOVD

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

Phenotype #0000300173 Individual ID 00408043 Associated disease - Phenotype details best corrected visual acuity right, left eye: hand motion , 20/400 on the left eye; mild nystagmus; fundus: revealed widespread retinal degeneration with dense intraretinal pigment migration; pallor of the optic disk and attenuation of retinal vessels, macula particularly atrophic, with yellowing and pigmentation; short-wavelength fundus autofluorescence: generalized loss of autofluorescence at the posterior pole Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite macular dystrophy Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-12 14:05:43 +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.