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GENATLAS PHENOTYPE

last update : 14-10-2013

Symbol	MTDPS13
Location	6q16.2
Name	mitochondrial DNA depletion syndrome13
Corresponding gene	FBXL4
Main clinical features	early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay severe encephalomyopathy consistently associated with progressive cerebral atrophy and variable involvement of the white matter, deep gray nuclei, and brainstem structures (PMID: 23993194)) cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
Type	disease

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