Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000306917 Individual ID 00415116 Associated disease - Phenotype details best corrected visual acuity right, left eye: 6/9, 6/12 ; refractive error (spherical equivalent): +19.00 D, +20.00 D; cataract: absent Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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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