Phenotype #0000306920

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00415119
Associated disease	-
Phenotype details	best corrected visual acuity: 6/60 both eyes; refractive error (spherical equivalent): +17.75 D, +18.00 D; foveal cystic spaces: present; optic nerve head drusen: absent; cataract: absent
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome
Age/Examination	34y (34 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-08 14:02:58 +02:00 (CEST)
Date last edited	N/A

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