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GENATLAS PHENOTYPE

last update : 27-06-2019

Symbol	MTDPS14
Location	3q29
Name	mitochondrial DNA depletion syndrome 14
Corresponding gene	OPA1
Main clinical features	severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy; hypotonia and peripheral hypertonia with opisthotonic posturing from birth, as well as feeding difficulties and profound neurodevelopmental delay serum lactate and alanine were elevated, but cerebrospinal fluid (CSF) lactate was normal
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	cardiovascular
	mental retardation
Type	disease

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