Global Variome shared LOVD

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Phenotype #0000312639 Individual ID 00421400 Associated disease - Phenotype details best corrected visual acuity right, left eye: not available (asymptomatic); fundus appearance: subtle pigmentary change and extramacular drusen; near infrared reflectance: not available; fundus autofluorescence: mild, variable hyper and hypo- autofluorescence; optical coherence tomography: not available; not available Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite macular pattern dystrophy Age/Examination 63y (63 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 2022-11-04 15:42:01 +01:00 (CET) Date last edited N/A

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