Phenotype #0000303156

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00411066
Associated disease	-
Phenotype details	VA: 0.15/0.52; RPE atrophy with clumped pigment and bone spicules at the vascular arcades and in periphery. Wide-spread SDD at the posterior pole with RPE dystrophy in the both eyes ; Not available ;
Diagnosis/Initial	NR2E3-related retinal dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	55y (55 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-05-31 18:45:49 +02:00 (CEST)
Date last edited	N/A

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