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Metadata
ID DOID:0050575
Name D-2-hydroxyglutaric aciduria
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
Xrefs

GARD:5661

MIM:PS600721

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Parent Relationships

is_a 2-hydroxyglutaric aciduria

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