Global Variome shared LOVD

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

Phenotype #0000358965 Individual ID 00474165 Associated disease MD Phenotype details see paper; ..., slow progressions; failure to thrive; sensorineural hearing loss; 1y6m-progressive muscle weakness; joint contractures; respiratory insufficiency; no cardiac involvement; 7y-loss ambulation; progressive scoliosis; short stature; no hypotonia; muscular atrophy; no ataxia Diagnosis/Initial muscular dystrophy, hearing loss Inheritance Familial, autosomal recessive Diagnosis/Definite MDHLO Age/Examination 8y (8 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 14:52:22 +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.