Disease-gene associations mined from literature

Human genes for D-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria [DOID:0050575]

An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.

Synonyms:  D-2-hydroxyglutaric aciduria,  D2hydroxyglutaric aciduria,  DOID:0050575

Linkouts:  OMIM #1 #2