Phenotype #0000242999

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00324429
Associated disease	OCA
Diagnosis/Initial	albinism
Diagnosis/Definite	albinism
Phenotype details	nystagmus, anomalous head posture, grade 1 foveal hypoplasia, misrouting on VEP
Inheritance	Familial, autosomal recessive
Age/Examination	05y (5 years)
Age/Diagnosis	05y
Age/Onset	-
Phenotype/Onset	-
Owner name	Mervyn Thomas
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2020-12-13 10:48:25 +01:00 (CET)
Date last edited	N/A

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