ABAT, 4-aminobutyrate aminotransferase, 18

N. diseases: 127; N. variants: 20
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293 2016