Atrial septal defect, Bicuspid aortic valve, Bifid uvula, Bloody diarrhea, Brittle hair, Broad forehead, Cafe-au-lait spot, Cholestasis, Cirrhosis, Cognitive impairment, Colitis, Curly hair, Dependency on intravenous nutrition, Depressed nasal ridge, Diarrhea, Downslanted palpebral fissures, Dry skin, Failure to thrive, Fine hair, Frontal bossing, Galactosuria, Gastritis, Generalized hypopigmentation, Glaucoma, Global developmental delay, Hepatic failure, Hepatic fibrosis, Hepatoblastoma, Hepatomegaly, Hypermethioninemia, Hypertelorism, Hypoalbuminemia, Hypopigmentation of hair, Hypoplasia of the thymus, Hypospadias, Hypothyroidism, Immunodeficiency, Increased circulating iron concentration, Increased mean platelet volume, Intellectual disability, mild, Intractable diarrhea, Intrauterine growth retardation, Jaundice, Large placenta, Long philtrum, Low-set ears, Lymphopenia, Microtia, Narrow mouth, Neurodevelopmental delay, Panhypogammaglobulinemia, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Polycystic kidney dysplasia, Polyhydramnios, Prominent forehead, Proptosis, Pulmonic stenosis, Recurrent infections, Renal cortical microcysts, Renal hypoplasia, Short stature, Small for gestational age, Sparse hair, Splenomegaly, Tetralogy of Fallot, Thrombocytosis, Trichorrhexis nodosa, Uncombable hair, Underdeveloped supraorbital ridges, Ventricular septal defect, Villous atrophy, Wide mouth, Wide nasal bridge, Wide nose, Woolly hair