has material basis in germline mutation in SLC25A12 developmental and epileptic encephalopathy, 39 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_39 https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_39_with_leukodystrophy GARD:0017532 MONDO:0013056 MESH:C567847 SLC25A12 early infantile epileptic encephalopathy epileptic encephalopathy, early infantile, 39 MEDGEN:414492 A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. OMIM:612949 epileptic encephalopathy with global cerebral demyelination EIEE39 mitochondrial aspartate-glutamate carrier 1 deficiency early infantile epileptic encephalopathy caused by mutation in SLC25A12 SCTID:726702005 Orphanet:353217 UMLS:C2751855 AGC1 deficiency DOID:0080349 DEE39 mitochondrial substrate carrier disorder neonatal epilepsy syndrome genetic developmental and epileptic encephalopathy neonatal-onset developmental and epileptic encephalopathy