Additional Disease Briefs

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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
mitochondrial DNA depletion syndrome, myopathic form

Also known as: MTDPS2, mitochondrial DNA depletion myopathy, Tk2-related, mitochondrial DNA depletion syndrome 2, mitochondrial DNA depletion syndrome 2 (myopathic type), mitochondrial DNA depletion syndrome type 2, mtDNA depletion syndrome, myopathic form

mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Also known as: COXPD10, MTO1 combined oxidative phosphorylation deficiency, cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis, combined oxidative phosphorylation defect type 10, combined oxidative phosphorylation deficiency 10, combined oxidative phosphorylation deficiency caused by mutation in MTO1, combined oxidative phosphorylation deficiency type 10, mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Also known as: Cox deficiency myopathy, infantile, transient, MMIT, benign COX deficiency, infantile reversible cytochrome C oxidase deficiency myopathy, mitochondrial myopathy with reversible COX deficiency, mitochondrial myopathy with reversible complex IV deficiency, mitochondrial myopathy, infantile, transient, mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency, respiratory chain deficiency, infantile, transient, reversible infantile cytochrome C oxidase deficiency, reversible infantile respiratory chain deficiency

mitochondrial non-syndromic sensorineural hearing loss

Also known as: deafness, isolated, due to mitochondrial transmission, deafness, nonsyndromic sensorineural, mitochondrial, isolated mitochondrial neurosensory deafness, isolated mitochondrial sensorineural deafness, mitochondrial non-syndromic neurosensory deafness, mitochondrial non-syndromic sensorineural deafness

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