Global Variome shared LOVD

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Phenotype #0000358972 Individual ID 00474172 Associated disease MD Phenotype details see paper; ..., slow progressions; no failure to thrive; sensorineural hearing loss; 7m-progressive muscle weakness; joint contractures; espiratory insufficiency; primary ovarian insufficiency; no cardiac involvement; progressive scoliosis; short stature; 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

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