Phenotypes for disease #00129 (NICCD (Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency), OMIM:605814)

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0000000243 birth weight: 2.3kg, jaundiced with pale-coloured stools and had a mild hepatosplenomegaly. Liver function test revealed conjugated hyperbilirubinemia and evidence of liver dysfunction. - Nur Aisyah Athirah 00000663
0000000244 birth weight: 2.1kg, jaundiced with pale stools, failure to thrive and a mild hepatosplenomegaly, had hypokalemia, hypophosphatemia and metabolic acidosis with normal anion gap. Hepatic sonography showed features of fatty liver but normal biliary tract. Hepatic biopsy showed generalized macrovesicular steatosis, bile stasis, and the portal tract was infiltrated by lymphocytes - Nur Aisyah Athirah 00000664
0000000245 birth weight: 2.5kg. Laboratory tests revealed conjugated hyperbilirubinemia. Total blood galactose was elevated seven times from normal but normalized at the age of 3 month. - Nur Aisyah Athirah 00000665
0000000250 Birth weight: 2.5kg, physiological jaundice at 3 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. - Nur Aisyah Athirah 00000705
0000000251 Birth weight: 2.3kg, jaundice at 8 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. - Nur Aisyah Athirah 00000706
0000000252 Birth weight: 2.46kg, cholestatic jaundice at 8 weeks, Mild delay in development - Nur Aisyah Athirah 00000707
0000000253 Birth weight: 2.95kg, transient neonatal physiological jaundice at 8 weeks, Failure to thrive - Nur Aisyah Athirah 00000708
0000000254 Birth weight: 2.1kg, cholestatic jaundice at 20 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. - Nur Aisyah Athirah 00000709
0000000255 Birth weight: 2.5kg, physiological jaundice at 8 weeks - Nur Aisyah Athirah 00000710
0000000256 Birth weight: 2.6kg, prolonged cholestatic jaundice at 8 weeks, Hepatomegaly - Nur Aisyah Athirah 00000711
0000000257 Birth weight: 2.5kg, prolonged cholestatic jaundice at 4 weeks, Hepatomegaly. - Nur Aisyah Athirah 00000712
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