Global Variome shared LOVD

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Phenotype #0000305894 Individual ID 00413967 Associated disease - Phenotype details best corrected visual acuity right, left eye: 6/6, 6/6; fundus phenotype: white dots typical of fundus albipunctatus in the midperiphery of the retina; normal daytime vision; no retinal pigment epithelium degeneration; retinoscopy: low hypermetropia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite fundus albipunctatus Age/Examination 10y (10 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 2022-07-26 12:00:20 +02:00 (CEST) Date last edited N/A

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