Global Variome shared LOVD

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Phenotype #0000054870 Individual ID 00075095 Associated disease - Phenotype details retinitis pigmentosa; Visual field defects typically originate in the midperiphery, with gradual enlargement to both the periphery and the center of the retina. Typically, the ERG recordings demonstrate photoreceptor degeneration in a rod–cone pattern. Severe chorioretinal atrophy. Ringscotomas in the past. Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <88y Phenotype/Onset Night blindness 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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