Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000306388 Individual ID 00414589 Associated disease - Phenotype details refractive error: -2.3; best corrected visual acuity: 0.8; full field electroretinography, flicker: amplitude: 72, implicit time: 30.8; mixed amplitude: a-wave: 142, b-wave: 92; rod response: absent Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite congenital stationary night blindness Age/Examination 12y (12 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 2022-07-29 12:13:59 +02:00 (CEST) Date last edited N/A

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