Phenotype #0000247039

Individual ID 00328832
Associated disease neuropathy, optic
Phenotype details Severely reduced visual acuity (HP:0001141); Progressive visual loss (HP:0000529); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Photoreceptor layer loss on macular OCT (HP:0030609); Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 27y (27 years)
Age/Diagnosis -
Age/Onset 01y-05y
Phenotype/Onset -
Protein -
Owner name Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2021-02-01 14:33:27 +01:00 (CET)
Date last edited 2021-02-04 10:47:54 +01:00 (CET)

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