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: 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

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)