Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Fasciculations, Frequent falls, Gait disturbance, Generalized myoclonic seizure, Generalized-onset seizure, Global developmental delay, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive distal muscular atrophy, Proximal muscle weakness, Pulmonary fibrosis, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Seizure, Short stature, Spinal muscular atrophy, Splenomegaly, Subcutaneous nodule, Tongue fasciculations, Tremor

abnormal pulmonary alveolus morphology, abnormal sphingomyelin level, abnormal thymus morphology, decreased CD4-positive, alpha beta T cell number, decreased double-positive T cell number, decreased gonadal fat pad weight, decreased long bone epiphyseal plate size, decreased mean corpuscular hemoglobin, decreased mean corpuscular volume, decreased splenocyte number, decreased tertiary ovarian follicle number, embryonic lethality, complete penetrance, enlarged lymph nodes, enlarged thymus, increased ceramide level, increased circulating CXCL10 level, increased circulating alanine transaminase level, increased circulating aspartate transaminase level, increased circulating interleukin-12b level, increased circulating lactate dehydrogenase level, increased erythrocyte cell number, increased granulocyte number, increased hematopoietic stem cell number, increased macrophage cell number, increased macrophage derived foam cell number, increased neutrophil cell number, increased sphingosine level, increased spleen weight, limb grasping, pale liver, pale spleen, penis prolapse, premature death, pulmonary alveolar edema, skeletal muscle fiber atrophy, small ovary