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GENATLAS PHENOTYPE

last update : 23-03-2011

Symbol	FLAMM
Location	2p14-2.p11.2
Name	fatal lactic acidosis with methylmalonic aciduria
Other name(s)	mitochondrial DNA depletion syndrome-9
Corresponding gene	SUCLG1
Other symbol(s)	MTDPS9
Main clinical features	feeding difficulty, weakness, lethargy, convulsions, other neurologic abnormalities, muscular hypotonia, obesity, and signs and symptoms of metabolic acidosis, with multiples mitochondrial deficiencies dysmaturity, with hypertrichosis and low hairline, hepatomegaly and severe hypothermia
Genetic determination	autosomal recessive
Function/system disorder	neurology
	metabolism/carbohydrates
Type	disease

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