Global Variome shared LOVD

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

Phenotype #0000358982 Individual ID 00474182 Associated disease PRLTS Phenotype details see paper; ..., sensorineural hearing loss; premature ovarian insufficiency, late puberty, 15y-thelarche, 17y-menarche, irregular menstrual cycles; myopathy, fatigue, difficulty climbing stairs Diagnosis/Initial Perrault syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite MDHLO Age/Examination 39y (39 years) Age/Diagnosis - 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 2026-03-12 19:27:56 +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.