Global Variome shared LOVD

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

Phenotype #0000326644 Individual ID 00436464 Associated disease STGD Phenotype details Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002, Moderate sensorineural hearing impairment HP:0008504 Diagnosis/Initial Stargardt Inheritance - Diagnosis/Definite STGD1;USH2A Age/Examination 01y (1 year) Age/Diagnosis 10y Age/Onset 01y Phenotype/Onset - 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 2023-09-17 05:25:12 +02:00 (CEST) Date last edited 2023-09-18 15:46:32 +02:00 (CEST)

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