Global Variome shared LOVD

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

Phenotype #0000357040 Individual ID 00472231 Associated disease PEOB5 Diagnosis/Initial Metabolic myopathy Diagnosis/Definite Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 Phenotype details Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, Ptosis, Bilateral sensorineural hearing impairment, easy fatigability, progressive external ophtalmoplegia, exercice intolerance, hearing impairment, bilteral ptosis, weakness of facial musculature Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-19 15:35:08 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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