Phenotype #0000358963

Individual ID 00474163
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; no 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 11y (11 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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