Global Variome shared LOVD

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Phenotype #0000306061 Individual ID 00414160 Associated disease - Phenotype details best corrected visual acuity right, left eye: 6/6, 6/6; fundus findings: no macular atrophy, no pigment deposition, and no vascular attenuation; electroretinographic characteristics: a- and b-waves absent under the scotopic condition, whereas the cone responses somewhat reduced under the photopic condition Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite congenital stationary night blindness Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset night blindness since early childhood Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-27 11:31:24 +02:00 (CEST) Date last edited N/A

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