Global Variome shared LOVD

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Phenotype #0000201797 Individual ID 00263888 Associated disease - Phenotype details ate-onset RP, 47y-night blindness, slow disease progression, characteristic hyper-autofluorescent ring surrounding the central macula, midperipheral outer retinal atrophy with intraretinal pigmentation of mixed specular and nummular types, and attenuated retinal vasculature; no systemic disease manifestations recorded Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP-73 Age/Examination - Age/Diagnosis - Age/Onset - 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 2019-08-30 19:45:33 +02:00 (CEST) Date last edited 2019-08-30 19:52:56 +02:00 (CEST)

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