Global Variome shared LOVD

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

Phenotype #0000300116 Individual ID 00407986 Associated disease - Phenotype details best corrected visual acuity right; left eye: 20/70; 20/60 (7y), visual field: V4e 138deg, I4e 92deg right eye; V4e 130deg, I4e 55deg left eye (7y), electroretinography: Rods at 26- 28% and cones at 13- 16% of normal both eyes (6y) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-11 18:59:20 +02:00 (CEST) Date last edited N/A

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