Phenotype #0000350919

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465367
Associated disease	OCA1
Phenotype details	see paper; ..., skin color white; hair color white; iris color light blue; nystagmus
Diagnosis/Initial	oculocutaneous albinism
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	OCA1
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-05-15 16:56:51 +02:00 (CEST)
Date last edited	N/A

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