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GENATLAS PHENOTYPE

last update : 17-07-2018

Symbol	MGCA7
Location	11q13.4
Name	3-methylglutaconic aciduria, type VII
Other name(s)	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Corresponding gene	CLPB
Other symbol(s)	MEGCAN
Main clinical features	neonatal encephalopathy, intellectual disability, congenital neutropenia, progressive brain atrophy with microcephaly, movement disorder, cataracts, and 3-methylglutaconic aciduria neutropenia with progression into leukemia, mental retardation and death in the first months of life
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
	mental retardation
Type	disease

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