Global Variome shared LOVD

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

Phenotype #0000326738 Individual ID 00436587 Associated disease USH2A Phenotype details Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551 Diagnosis/Initial Retinal dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite # 608051 Age/Examination 04y (4 years) Age/Diagnosis 27y Age/Onset 04y Phenotype/Onset 4y Protein - Owner name Rocio Villafuerte-de la Cruz Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Rocio Villafuerte-de la Cruz Date created 2023-09-21 22:20:42 +02:00 (CEST) Date last edited 2023-09-22 14:45:01 +02:00 (CEST)

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