Generalized edema, Generalized hypotonia, Gingival bleeding, Global developmental delay, Hemiplegia, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemia, Hypoalbuminemia, Hypofibrinogenemia, Hyponatremia, Hypoproteinemia, Hypotonia, Increased CSF protein, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Increased circulating ferritin concentration, Increased intracranial pressure, Increased total bilirubin, Infectious encephalitis, Irritability, Jaundice, Leukopenia, Lymphadenopathy, Lymphoma, Meningitis, Neutropenia, Pancytopenia, Prolonged partial thromboplastin time, Prolonged prothrombin time, Recurrent infections, Reticulocytopenia, Retinal hemorrhage, Seizure, Spasticity, Splenomegaly, Tetraplegia, Thrombocytopenia

behavior/neurological phenotype, decreased NK cell degranulation, decreased T cell apoptosis, decreased bone marrow cell number, decreased circulating alanine transaminase level, decreased circulating fibrinogen level, decreased cytotoxic T cell cytolysis, decreased erythrocyte cell number, decreased heart weight, decreased interferon-gamma secretion, decreased locomotor activity, decreased susceptibility to autoimmune diabetes, decreased susceptibility to bacterial infection, decreased tumor latency, hunched posture, immune system phenotype, impaired natural killer cell mediated cytotoxicity, increased B cell derived lymphoma incidence, increased T cell derived lymphoma incidence, increased activated T cell number, increased circulating aspartate transaminase level, increased circulating interferon-alpha level, increased circulating interferon-gamma level, increased circulating interleukin-1 beta level, increased circulating interleukin-10 level, increased circulating interleukin-18 level, increased circulating interleukin-6 level, increased circulating lactate dehydrogenase level, increased circulating tumor necrosis factor level, increased incidence of induced tumors, increased interferon-gamma secretion, increased interleukin-10 secretion, increased lymphoma incidence, increased physiological sensitivity to xenobiotic, increased sensitivity to induced morbidity/mortality, increased spleen red pulp amount, increased susceptibility to Herpesvirales infection, increased susceptibility to Herpesvirales infection induced morbidity/mortality, increased susceptibility to Picornaviridae infection, increased susceptibility to Riboviria infection, increased susceptibility to Riboviria infection induced morbidity/mortality, increased susceptibility to parasitic infection, increased susceptibility to viral infection induced morbidity/mortality, increased tumor growth/size, increased tumor latency, increased tumor necrosis factor secretion, insulitis, lymph node necrosis, no abnormal phenotype detected, periinsulitis, premature death, ruffled hair