Term Name: D-2-hydroxyglutaric aciduria
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.
Ontology: Human Disease [DOID:0050575]   ( DOID:0050575 )

Relationships
is a type of: 2-hydroxyglutaric aciduria
has subtype: D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria 2