Global Variome shared LOVD

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

Phenotype #0000330516 Individual ID 00440604 Associated disease - Phenotype details night blindness, visual field defects; retinitis pigmentosa; macular dystrophy/macular degeneration; amblyopia; blood fat Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 02y-12y Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-04 21:20:21 +01:00 (CET) Date last edited N/A

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