Global Variome shared LOVD

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

Phenotype #0000293305 Individual ID 00400266 Associated disease - Phenotype details best-corrected visual acuity right/left eye (OD/OS): 0.8/0.7, cataract: yes (30y), macular degeneration: severe OD, mild OS, optic disc: waxy, artery attenuation, pigment deposits, electroretinography: diminished<55deg/<55deg, hearing undetectable (age): no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Retinitis pigmentosa Age/Examination 55y (55 years) Age/Diagnosis - Age/Onset - Phenotype/Onset nyctalopia (28y) Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-26 14:10:36 +01:00 (CET) Date last edited N/A

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