Global Variome shared LOVD

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Phenotype #0000275810 Individual ID 00381968 Associated disease - Phenotype details visual acuity : od: 0.1, os: 0.1; fundus: minor foveal pigment mottling, otherwise normal; color vision: impaired; electroretinography: erg examination not tolerated by patient; photophobia: yes; nystagmus : yes; progression: no follow up Diagnosis/Initial incomplete achromatopsia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - 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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