Global Variome shared LOVD

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Phenotype #0000301988 Individual ID 00409874 Associated disease - Phenotype details visual field restricted to tiny central islands; funduscopy: optic disc pallor, attenuated retinal arterioles, peripheral RPE atrophy and perimacular retinal surface wrinkling but little bone-spicule pigment Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal dystrophy Age/Examination 23y (23 years) Age/Diagnosis 7y Age/Onset - Phenotype/Onset night blindness and poor vision as a child Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-13 11:25:44 +02:00 (CEST) Date last edited N/A

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