has material basis in germline mutation in SLC25A13 neonatal intrahepatic cholestasis due to citrin deficiency https://www.malacards.org/card/citrullinemia_type_ii_neonatal_onset https://www.malacards.org/card/neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency OMIM:605814 Orphanet:247598 MESH:C536398 citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia UMLS:C1853942 neonatal intrahepatic cholestasis caused by citrin deficiency NANDO:1200979 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0011601 SCTID:717155003 GARD:0010214 Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. MEDGEN:340091 neonatal-onset citrullinemia type 2 DOID:0070341 neonatal-onset citrullinemia type II NICCD citrin deficiency