glucose transporter type 1 deficiency syndrome 1

Term ID

DOID:0070561

Synonyms

• classic glucose transporter type 1 deficiency syndrome
• classic GLUT1 deficiency syndrome
• classic GLUT1-DS
• De Vivo disease
• encephalopathy due to GLUT1 deficiency
• GLUT1 deficiency syndrome 1
• GLUT1DS1

Definition

A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. (2)

References

• GARD:9265
• MIM:606777
• ORDO:71277
• UMLS_CUI:C4551966

Ontology

Human Disease   ( DOID:0070561 )