Phenotype #0000069480

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00090099
Associated disease	OCA1B
Phenotype details	tyrosinase positive OCA, pale-yellow scalp hair, white eyebrows, nystagmus, photophobia, strabismus, decreased visual acuity, one pigmented compound nevus neck, several flesh-colored halo nevi, port wine stain lower lumbar region
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-12-04 12:41:34 +01:00 (CET)
Date last edited	N/A

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