Phenotype #0000247030

Individual ID 00328818
Associated disease neuropathy, optic
Phenotype details Ultra-low vision with retained light perception (HP:0032286); Nystagmus (HP:0000639); Photophobia (HP:0000613); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Bone spicule pigmentation of the retina (HP:0007737); Macular edema (HP:0040049); Undetectable light- and dark-adapted electroretinogram (HP:0007688); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Severe constriction of peripheral visual field (HP:0030526)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 64y (64 years)
Age/Diagnosis -
Age/Onset 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 09:22:17 +01:00 (CET)
Date last edited 2021-02-04 10:48:35 +01:00 (CET)

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