Global Variome shared LOVD

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

Phenotype #0000255976 Individual ID 00360571 Associated disease - Phenotype details visual acuity: OD = artificial eye, OS = 6/24. ERG: Marked reduction in cone and rod responses (cone>rod).PERG: Absent. Colour vision: Marked protan, deutan, and tritan defects Diagnosis/Initial retinal dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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