Global Variome shared LOVD

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

Phenotype #0000347604 Individual ID 00459527 Associated disease PRLTS Phenotype details see paper; ..., bilateral sensorineural hearing loss; severity profound; bilateral hearing aids, 20y-bilateral cochlear implants; primary ovarian insufficiency; primary amenorrhea; childhood lactic acidosis; childhood hypoglycemia; MRI brain normal; no epilepsy; mild intellectual disability; no renal dysfunction; no retinopathy; no hepatomegaly; no transient liver failure Diagnosis/Initial Perrault-syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 20y (20 years) Age/Diagnosis 4y Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-08 10:12:39 +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.