glucose transporter type 1 deficiency syndrome 1

Summary

DOID:0070561 - glucose transporter type 1 deficiency syndrome 1

Disease Ontology Definition:A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): glucose transporter type 1 deficiency syndrome (is_a)