Phenotype #0000358974

Individual ID 00474174
Associated disease MD
Phenotype details see paper; ..., moderate progressions; no failure to thrive; no sensorineural hearing loss; no progressive muscle weakness; joint contractures; espiratory insufficiency; no primary ovarian insufficiency; no cardiac involvement; 11y-loss ambulation; progressive scoliosis; short stature; hypotonia; muscular atrophy; no ataxia
Diagnosis/Initial muscular dystrophy, hearing loss
Inheritance Familial, autosomal recessive
Diagnosis/Definite MDHLO
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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