Global Variome shared LOVD

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Phenotype #0000247031 Individual ID 00328823 Associated disease neuropathy, optic Phenotype details Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Attenuation of retinal blood vessels (HP:0007843); Bone spicule pigmentation of the retina (HP:0007737); Ring scotoma (HP:0030529); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 05y Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2021-02-01 09:48:13 +01:00 (CET) Date last edited 2021-02-04 10:48:24 +01:00 (CET)

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