Phenotype #0000028490

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00037947
Associated disease	LCA
Phenotype details	Night blindness, photophobia, nystagmus, fairly normal optic discs, limited vascular attenuation with relative PPRPE, nummular hyperpigmentation of the macula, retinal periphery and multiple typical white subretinal deposits scattered throughout the fundus
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	?
Protein	-
Owner name	Frans Cremers
Database submission license
Created by	Frans Cremers
Date created	2015-05-01 22:00:00 +02:00 (CEST)
Date last edited	N/A

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