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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:maternally-inherited cardiomyopathy and hearing loss
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Accession:EFO:MONDO:0015283 term browser browse the term
Definition:Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
Synonyms:exact_synonym: maternally-inherited cardiomyopathy and deafness;   tRNA-LYS-related cardiomyopathy-hearing loss syndrome
 alt_id: MONDO:0015283
 xref: GARD:18719;   MEDGEN:1376897;   ORDO:1349;   UMLS:C4510409


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            maternally-inherited cardiomyopathy and hearing loss 0
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