Phenotype #0000028491

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00037948
Associated disease	LCA
Phenotype details	Night blindness, nystagmus, pale optic discs with mild prepapillary fibrosis, vascular attenuation without PPRPE, macular aplasia, several larger areas of subretinal white deposits and confluent nummular intraretinal pigmentation in periphery
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	6y
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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