has material basis in germline mutation in ABAT gamma-amino butyric acid metabolism disorder GABA aminotransaminase deficiency https://github.com/monarch-initiative/mondo/issues/5915 https://www.malacards.org/card/gaba_aminotransferase_deficiency https://www.malacards.org/card/gaba_transaminase_deficiency GARD:0000194 Orphanet:2066 NANDO:2200598 GABAT MEDGEN:137977 gamma aminobutyric acid transaminase deficiency UMLS:C0342708 MESH:C535407 DOID:0060174 gamma-aminobutyric acid transaminase deficiency GABA-transaminase deficiency Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. GABA aminotransferase deficiency HGNC:23 GABA transaminase deficiency MONDO:0013166 ABAT SCTID:237941007 4 alpha aminobutyrate transaminase deficiency gamma aminobutyrate transaminase deficiency OMIM:613163 disorder of beta and omega amino acid metabolism