has material basis in germline mutation in SLC2A1 GLUT1 deficiency syndrome encephalopathy due to GLUT1 deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome https://www.malacards.org/card/glut1_deficiency_syndrome_1 Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. GLUT1DS1 De Vivo disease GLUT1 deficiency syndrome type 1 MEDGEN:1645412 DOID:0070561 icd11.foundation:1231079185 GARD:0009265 MESH:C536830 glucose transporter protein syndrome NANDO:1200799 glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included NANDO:2200545 Glucose Transporter Type 1 Deficiency Syndrome GLUT1 deficiency syndrome encephalopathy due to GLUT1 deficiency glucose transporter Protein syndrome GLUT1 deficiency syndrome 1 G1D glut-1 deficiency syndrome glucose transporter type 1 deficiency UMLS:C4551966 GLUT1-DS glucose transporter type1 (glut-1) deficiency glucose transport defect, blood-brain barrier OMIM:606777 glucose transporter type 1 deficiency syndrome GLUT1 DS MONDO:0011724 NORD:1188 GLUT1 deficiency syndrome 1, infantile onset, severe Orphanet:71277 glucose transport disorder