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GENATLAS PHENOTYPE

last update : 21/08/2006

Symbol	MTHFR
Location	1p36.22
Name	developmental delay
Other name(s)	MTHFR deficiency
Corresponding gene	MTHFR
Main clinical features	gait, neurologic and psychiatric disturbances, severe hyperhomocystinemia, homocystinuria, hypomethioninemia and low folate levels in serum, RBC and CSF, and/or severe or mild premature vascular disease (atherosclerotic)
Genetic determination	autosomal recessive
Function/system disorder	metabolism/vitamin
Type	disease

Gene product

Name	5-10 methylene THF reductase (MTHFR)

Remark(s)