Global Variome shared LOVD

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Phenotype #0000306919 Individual ID 00415118 Associated disease - Phenotype details best corrected visual acuity: 6/60 both eyes; refractive error (spherical equivalent): , +30.00 D, +27.75 D; foveal cystic spaces: present; optic nerve head drusen: present; cataract: absent Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset <5y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-08 14:02:58 +02:00 (CEST) Date last edited N/A

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