Phenotype #0000291736

Individual ID 00398653
Associated disease -
Phenotype details visual acuity left, right eye: fixes and follows, fixes and follows, retinoscopic refraction, spherical equivalent: +3.25, +3.00, fundus appearance: normal, full-field electroretinography, scotopic/photopic: mildly reduced/severely reduced and prolonged, no foveal hypoplasia, foveal ellipsoid zone: disrupted
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 1y4m (1 year, 4 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-01-08 20:21:17 +01:00 (CET)
Date last edited N/A

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