Global Variome shared LOVD

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Phenotype #0000350878 Individual ID 00465326 Associated disease OCA1 Phenotype details see paper; ..., hair color golden blond; skin color reddish white; skin rashes on sunlight exposure; iris color grey; photophobia; nystagmus; foveal hypoplasia; fundus albiniotic Diagnosis/Initial non-syndromic oculocutaneous albinism Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 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

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