Global Variome shared LOVD

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Phenotype #0000307829 Individual ID 00416063 Associated disease - Phenotype details age at first exam (y): 2, age at last exam: 4; best corrected visual acuity best eye 1st exam: 0.1, last exam: 0.1; visual complaints: photophobia: severe ,nystagmus: yes; refractive error spherical equivalent: 10.5; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: no; periphery last exam: normal; cone electroretinogram: no responses, last exam: no responses Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite complete achromatopsia Age/Examination 4y (4 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 2022-08-22 17:22:08 +02:00 (CEST) Date last edited N/A

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