Global Variome shared LOVD

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

Phenotype #0000350881 Individual ID 00465329 Associated disease OCA1 Phenotype details see paper; ..., hair color golden blond; skin color red; no skin rashes; iris color light grey; photophobia; nystagmus; foveal hypoplasia; fundus albiniotic Diagnosis/Initial non-syndromic oculocutaneous albinism Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 25y (25 years) 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 2025-05-15 15:27:14 +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.