Fetal ascites, Foam cells, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypotonia, Intellectual disability, Loss of speech, Low cholesterol esterification rate, Neurofibrillary tangles, Neuronal loss in central nervous system, Prolonged neonatal jaundice, Psychosis, Sea-blue histiocytosis, Seizure, Spasticity, Splenomegaly, Vertical supranuclear gaze palsy

abnormal ceramide level, abnormal cerebellum anterior vermis morphology, abnormal cerebellum posterior vermis morphology, abnormal cerebral cortex morphology, abnormal cholesterol level, abnormal enzyme/coenzyme level, abnormal exploration in a new environment, abnormal female reproductive system morphology, abnormal ganglioside level, abnormal granulosa cell morphology, abnormal hepatocyte morphology, abnormal hippocampus CA3 region morphology, abnormal lipid homeostasis, abnormal lipid level, abnormal lung vasculature morphology, abnormal microglial cell activation, abnormal microglial cell physiology, abnormal mitochondrial crista morphology, abnormal mitochondrial matrix morphology, abnormal mitochondrial physiology, abnormal motor capabilities/coordination/movement, abnormal neocortex morphology, abnormal object recognition memory, abnormal olfactory epithelium morphology, abnormal olfactory nerve morphology, abnormal olfactory sensory neuron morphology, abnormal olfactory system morphology, abnormal ovarian follicle morphology, abnormal ovarian secretion, abnormal pain threshold, abnormal plasma membrane sphingolipid content, abnormal pons morphology, abnormal primary cilium morphology, abnormal response to novel object, abnormal sperm head morphology, abnormal sperm physiology, abnormal sphingolipid level, abnormal sphingomyelin level, abnormal surfactant composition, abnormal tertiary ovarian follicle morphology, abnormal trigeminal ganglion morphology, abnormal type II pneumocyte morphology, absent corpus luteum, absent estrous cycle, absent mature ovarian follicles, absent sperm flagellum, absent sperm head, anovulation, arrest of spermatogenesis, axonal spheroids, decreased Purkinje cell number, decreased abdominal fat pad weight, decreased anxiety-related response, decreased body size, decreased brain cholesterol level, decreased brain size, decreased brain weight, decreased circulating prolactin level, decreased corpus callosum size, decreased endometrial gland number, decreased exploration in new environment, decreased food intake, decreased grip strength, decreased lactotroph cell number, decreased liver cholesterol level, decreased locomotor activity, decreased ovary weight, decreased prepulse inhibition, decreased prolactin level, dilated liver sinusoidal spaces, endometrium atrophy, enlarged alveolar lamellar bodies, foam cell reticulosis, growth/size/body region phenotype, hypoalgesia, impaired balance, impaired binding of sperm to zona pellucida, impaired fertilization, impaired learning, impaired olfaction, increased brain cholesterol level, increased ceramide level, increased cholesterol level, increased grip strength, increased liver cholesterol level, increased liver weight, increased lung weight, increased macrophage cell number, increased macrophage derived foam cell number, increased microglial cell activation, increased plasma membrane sphingolipid content, increased startle reflex, lethality, incomplete penetrance, lipidosis, microgliosis, nasal inflammation, nervous system phenotype, no abnormal phenotype detected, pale liver, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, reduced fertility, seminiferous tubule degeneration, slow postnatal weight gain, small cerebellum, small ovary, sphingomyelinosis, thick pulmonary interalveolar septum, thin endometrium, thin myometrium, thin uterus, uterus atrophy