Global Variome shared LOVD

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Phenotype #0000051383 Individual ID 00065277 Associated disease ? Diagnosis/Initial Inherited optic neuropathies (IONs) Diagnosis/Definite - Phenotype details Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Central scotoma (HP:0000603); Cerulean cataract (HP:0007976); Abnormal flash visual evoked potentials (HP:0007928); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843) Inheritance Familial, autosomal recessive Age/Examination 45y (45 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-25 13:44:12 +02:00 (CEST) Date last edited 2022-06-08 08:35:43 +02:00 (CEST)

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