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GENATLAS PHENOTYPE

last update : 15-10-2013

Symbol	MMACHX
Location	Xq28
Name	combined methylmalonic acidemia and hyperhomocysteinemia, cblX type
Corresponding gene	HCFC1
Main clinical features	severe neurological symptoms, which primarily include intractable epilepsy and neurocognitive impairment, profound developmental delay, microcephaly, movement disorders onset was either in the prenatal period or in early infancy
Genetic determination	sex linked
Function/system disorder	mental retardation
	mental retardation
Type	disease

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