Global Variome shared LOVD

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

Phenotype #0000245500 Individual ID 00327053 Associated disease maculopathy Diagnosis/Initial Bilateral, Symmetrical, Cuticular Drusen Diagnosis/Definite - Phenotype details Fundus: Multiple large, confluent drusen in the central macula and nasal retina Ocular Coherence Tomography (OCT): Numerous confluent drusen in the macula Vision at time of examination was unaffected. Inheritance Familial, autosomal recessive Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lance P Doucette Database submission license No license selected Created by Lance P Doucette Date created 2021-01-19 23:24:40 +01:00 (CET) Date last edited 2021-01-21 11:01:45 +01:00 (CET)

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