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Ontology Browser
Term:
maternally-inherited cardiomyopathy and hearing loss (EFO:MONDO:0015283)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
auditory neuropathy-optic atrophy syndrome 
autosomal dominant optic atrophy plus syndrome +  
Bjornstad syndrome 
ethylmalonic encephalopathy 
GRACILE syndrome 
hereditary myopathy with lactic acidosis due to ISCU deficiency 
inborn mitochondrial metabolism disorder +  
maternally-inherited cardiomyopathy and hearing loss 
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.
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 
pure mitochondrial myopathy 
X-linked sideroblastic anemia with ataxia 

Synonyms
Exact Synonyms: maternally-inherited cardiomyopathy and deafness ;   tRNA-LYS-related cardiomyopathy-hearing loss syndrome
Alternate IDs: MONDO:0015283
Xrefs: GARD:18719 ;   MEDGEN:1376897 ;   ORDO:1349 ;   UMLS:C4510409
Definition Sources: Orphanet:1349

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