Ataxia, Athetosis, Attention deficit hyperactivity disorder, Autoimmune thrombocytopenia, Behavioral abnormality, Bipolar affective disorder, Bone-marrow foam cells, Cherry red spot of the macula, Cholelithiasis, Cirrhosis, Constipation, Coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Decreased liver function, Decreased serum insulin-like growth factor 1, Delayed gross motor development, Delayed puberty, Delayed skeletal maturation, Depression, Diffuse reticular or finely nodular infiltrations, Dyspnea, Failure to thrive, Feeding difficulties in infancy, Foam cells with lamellar inclusion bodies, Generalized hypotonia, Generalized non-motor (absence) seizure, Global developmental delay, Hepatic failure, Hepatomegaly, Hyperlipidemia, Hypersplenism, Hypertriglyceridemia, Hyporeflexia, Hypotonia, Increased LDL cholesterol concentration, Intellectual disability, Lymphadenopathy, Microcytic anemia, Muscle weakness, Neoplasm of the liver, Nystagmus, Osteopenia, Osteoporosis, Pathologic fracture, Peripheral neuropathy, Progressive pulmonary function impairment, Prolonged neonatal jaundice, Protuberant abdomen, Psychomotor retardation, Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Rigidity, Sea-blue histiocytosis, Short stature, Spasticity, Specific learning disability, Splenomegaly, Systemic lupus erythematosus, Thrombocytopenia, Vomiting, Xanthomatosis

abnormal pulmonary alveolus morphology, asthenozoospermia, decreased brain size, hunched posture, immune system phenotype, impaired sperm capacitation, increased macrophage derived foam cell number, midbrain atrophy, premature death, reproductive system phenotype