Global Variome shared LOVD

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Phenotype #0000054792 Individual ID 00075017 Associated disease - Phenotype details retinitis pigmentosa; The ERG responses of the rods and cones were hardly detectable or extinguished. These sibs had marked chorioretinal atrophy of the posterior pole, a ‘waxy’ pallor of the optic disk, attenuated retinal vessels and bone spicules in the (mid)periphery of the retina. Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset unknown Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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