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Term:
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 
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 
pure mitochondrial myopathy 
Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.
X-linked sideroblastic anemia with ataxia 

Synonyms
Alternate IDs: MONDO:0016807
Xrefs: GARD:20768 ;   MEDGEN:1375079 ;   ORDO:254854 ;   SCTID:732245008 ;   UMLS:C4517289 ;   icd11.foundation:141365898
Definition Sources: Orphanet:254854

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