The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.

Synonyms: Deficiency, Sphingomyelinase, Niemann-Pick Disease, Classical, Deficiencies, Sphingomyelinase, Sphingomyelin Cholesterol Lipidoses, Sphingomyelin Lipidoses, Niemann-Pick Disease, Acute Neuronopathic Form, Sphingomyelinase Deficiency Diseases, Sphingomyelinase Deficiencies, Sphingomyelin Cholesterol Lipidosis, Type A Niemann Pick Disease, Supraoptic Vertical Ophthalmoplegias, Niemann Pick Disease, Type A, Cholesterol Lipidoses, Neuronal, Niemann-Pick's Disease Type A, Sphingomyelin Lipidosis, Niemann Pick Disease, Acute Neurovisceral Form, Niemann Pick Disease, Neuronopathic Type, Cholesterol Lipidosis, Sphingomyelin, Niemann-Pick Disease, Neuronopathic Type, Supraoptic Vertical Ophthalmoplegia, Ophthalmoplegia, Supraoptic Vertical, Cholesterol Lipidosis, Neuronal, Sphingomyelinase Deficiency Disease, Cholesterol Lipidoses, Sphingomyelin, Classical Niemann-Pick Disease, Ophthalmoplegias, Supraoptic Vertical, Lipidoses, Sphingomyelin, Type A Niemann-Pick Disease, Sphingomyelinase Deficiency, Vertical Ophthalmoplegia, Supraoptic, Niemann-Pick Disease, Acute Neurovisceral Form, Lipidosis, Sphingomyelin, Lipidosis, Sphingomyelin Cholesterol, Niemann Pick's Disease Type A, Niemann-Pick Disease, Type A, Niemann Pick Disease, Acute Neuronopathic Form, Lipidoses, Neuronal Cholesterol, Vertical Ophthalmoplegias, Supraoptic, Neuronal Cholesterol Lipidoses, Classical Niemann Pick Disease, Lipidosis, Neuronal Cholesterol, Lipidoses, Sphingomyelin Cholesterol, Neuronal Cholesterol Lipidosis