Phenotype #0000028492

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00037949
Associated disease	LCA
Phenotype details	Night blindness, nystagmus, full optic discs, normal vessels without PPRPE, macular RPE alterations, several larger areas of nummular intraretinal pigmentation, especially temporal to the macula, diffuse very fine white subretinal deposits
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	2y6m
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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