D-2-hydroxyglutaric aciduria

Term ID

DOID:0050575

Synonyms

Definition

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. http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria

References

• GARD:5661
• MIM:PS600721

Ontology

Human Disease   ( DOID:0050575 )