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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