Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 04-12-2010

Symbol	D2HA2
Location	15q26.1
Name	D-2-hydroxyglutaric aciduria
Corresponding gene	IDH2
Main clinical features	developmental delay, epilepsy, hypotonia, cardiomyopathy, and dysmorphic features characterized by early-infantile-onset epileptic encephalopathy and, often, cardiomyopathy, MRI signs of disturbed cerebral maturation and white-matter abnormalities or milder phenotype
Genetic determination	autosomal dominant
Function/system disorder	metabolism/organic acid
Type	disease

Remark(s)