Global Variome shared LOVD

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

Phenotype #0000295189 Individual ID 00402425 Associated disease - Phenotype details scores 0-5 (0-2 mild, 3 moderate, 4 severe); best-corrected visual acuity loss: moderate, visual field loss: severe, ellipsoid zone loss: severe, cumulative score: 12, grade: severe, sub-RPE illumination 5 mm circle area (mm2): 3.6, sub-RPE illumination fovea distance (mm): 0.9, focal ERG (uV): 0.29, submicrovolt 30 Hz (uV): Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Usher syndrome type 2A Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset 28y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-06 13:32:32 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.