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Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Disease definition
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.
ORPHA:228012
Classification level: Disorder- Synonym(s):
- Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome
- Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome
- Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: All ages
- ICD-10: -
- OMIM: 606346
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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