Global Variome shared LOVD

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

Phenotype #0000067403 Individual ID 00087877 Associated disease RPar Phenotype details Disorganized aspect, many bone spicule-shaped yellowish pigment deposits in mid periphery , visible retinal vessels and waxy optic disks Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 42y Phenotype/Onset night blindness and visual field defects Protein - Owner name Raheel Qamar Database submission license No license selected Created by Raheel Qamar Date created 2012-09-06 09:49:01 +02:00 (CEST) Date last edited 2020-09-04 12:50:01 +02:00 (CEST)

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