Cirrhosis, Cognitive impairment, Coma, Complement deficiency, Cutis laxa, Decreased HDL cholesterol concentration, Decreased circulating antibody level, Decreased glomerular filtration rate, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Diarrhea, Elevated circulating hepatic transaminase concentration, Elevated plasma citrulline, Failure to thrive, Feeding difficulties, Fine hair, Generalized hypotonia, Glomerulonephritis, Hemophagocytosis, Hepatic amyloidosis, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, Hyperalaninemia, Hyperammonemia, Hypercholesterolemia, Hyperextensible skin, Hyperglutaminemia, Hyperglycinemia, Hyperlysinuria, Hyperprolinemia, Hypertriglyceridemia, Hypofibrinogenemia, Hypotonia, Increased LDL cholesterol concentration, Increased circulating antibody level, Increased circulating ferritin concentration, Increased circulating lactate concentration, Increased circulating lactate dehydrogenase concentration, Increased serum zinc, Infantile muscular hypotonia, Intellectual disability, Intraalveolar phospholipid accumulation, Lethargy, Leukopenia, Malnutrition, Membranous nephropathy, Muscle weakness, Nausea, Oral aversion, Ornithinuria, Oroticaciduria, Osteopenia, Osteoporosis, Pancreatitis, Pathologic fracture, Proteinuria, Psychotic episodes, Pulmonary hemorrhage, Recurrent bacterial infections, Recurrent fractures, Renal amyloidosis, Renal fibrosis, Respiratory insufficiency, Short stature, Skeletal muscle atrophy, Sparse hair, Splenomegaly, Stage 5 chronic kidney disease, Steatorrhea, Thrombocytopenia, Truncal obesity, Tubulointerstitial nephritis, Vomiting

pup cannibalization, reduced female fertility, unresponsive to tactile stimuli