Global Variome shared LOVD

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

Phenotype #0000291563 Individual ID 00398442 Associated disease - Phenotype details 17y: legally blind, 24y: no progression of symptoms, 32y: CV OK; PV getting noticeably worse Diagnosis/Initial retinitis pigmentosa (RP); myopic; has never driven Inheritance Familial, X-linked recessive Diagnosis/Definite Choroidermia (CHM) Age/Examination 16y (16 years) Age/Diagnosis 17y Age/Onset 33y 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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