| Metadata | |
|---|---|
| ID | DOID:0070561 |
| Name | glucose transporter type 1 deficiency syndrome 1 |
| Definition | A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. https://pubmed.ncbi.nlm.nih.gov/36315575/, https://www.ncbi.nlm.nih.gov/books/NBK1430/ |
| Xrefs | |
| SKOS |
exactMatch GARD:9265 exactMatch MIM:606777 exactMatch ORDO:71277 exactMatch UMLS_CUI:C4551966 |
| Subsets |
DO_rare_slim |
| Synonyms |
classic glucose transporter type 1 deficiency syndrome [EXACT] classic GLUT1 deficiency syndrome [EXACT] classic GLUT1-DS [EXACT] De Vivo disease [EXACT] encephalopathy due to GLUT1 deficiency [EXACT] GLUT1 deficiency syndrome 1 [EXACT] GLUT1DS1 [EXACT] |
| Parent Relationships |