Global Variome shared LOVD

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Phenotype #0000278867 Individual ID 00385083 Associated disease - Phenotype details nyctalopia/photophobia, nystagmus, oculodigital sign, ERG severely declined, best corrected visual acuity right/left eye: 0.03/0.03 Diagnosis/Initial early onset severe retinal dystrophy Inheritance Familial, X-linked Diagnosis/Definite early onset severe retinal dystrophy Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset 1m Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-06 17:52:46 +02:00 (CEST) Date last edited N/A

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