Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 27/07/2006

Symbol	MOCODC
Location	14q23.3
Name	molybdenum cofactor deficiency, type C
Corresponding gene	GPHN
Main clinical features	fatal disorder characterized by severe seizures, profound neurological abnormalities, facial dysmorphism and a combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
Genetic determination	autosomal recessive
Function/system disorder	metabolism/metal
Type	disease

Gene product

Name	molybdenum cofactor synthesis step 3

Remark(s)