Global Variome shared LOVD

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

Phenotype #0000291564 Individual ID 00398443 Associated disease - Phenotype details 20y: stopped driving at night, 30y: stopped driving completely, 34y: CV OK; decreased PV; photophobia worse; not legally blind Diagnosis/Initial AR retinitis pigmentosa (arRP) Inheritance Familial, X-linked recessive Diagnosis/Definite Choroidermia (CHM) Age/Examination 16y (16 years) Age/Diagnosis 20y Age/Onset 35y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-01-05 04:00:26 +01:00 (CET) Date last edited N/A

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