Global Variome shared LOVD

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Phenotype #0000275812 Individual ID 00381970 Associated disease - Phenotype details visual acuity : od: 0.66, os: 0:5; fundus: foveal atrophy, tiny crystlline shean to degeneration of foveal atrophy, grey shean to anterior retina.; color vision: impaired; electroretinography: scotopic: , photopic: , 30 hz flicker:; photophobia: no; nystagmus : n.d.; progression: n.d. Diagnosis/Initial cone dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-09-06 15:38:00 +02:00 (CEST) Date last edited N/A

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