Global Variome shared LOVD

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Phenotype #0000307903 Individual ID 00416137 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.1 both eyes; electroretinogram signals, scotopic: normal, photopic: absent; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: not available, at present: not available; photophobia: yes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 35y (35 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 2022-08-23 17:29:26 +02:00 (CEST) Date last edited N/A

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