Global Variome shared LOVD

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

Phenotype #0000116834 Individual ID 00144056 Associated disease - Phenotype details Age 69; visual acuity R=HM, L=HM; very pale, waxy optic disc, severely attenuated retinal vasculature, and extensive chorioretinal atrophy with minimal residual retinal pigment epithelium at the macular region, heavy irregular pigmentations in the (mid)peripheral retina Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 14y Phenotype/Onset - Protein - Owner name Rob W.J. Collin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-28 22:45:32 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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