Global Variome shared LOVD

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

Phenotype #0000294036 Individual ID 00400999 Associated disease - Phenotype details visual acuity (decimal) baseline/follow up: no data/no data; age of last audiogram: 37y, pure tone audiometry right/left ear: 55dBHL/53.75dBHL, severity (right/left): moderate/moderate, high frequency loss, symmetrical; for detailed phenotype see paper supplemental data Diagnosis/Initial USH2A-related disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-27 12:44:03 +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.