Neuraminidase Deficiency (SIALIDOSIS)

Alias:

Lipomucopolysaccharidosis

Sialidosis Type 1

Sialidosis Type 2

Cherry-Red Spot-Myoclonus Syndrome

Infantile Dysmorphic Sialidosis

Neuraminidase 1 Deficiency

Normomorphic Sialidosis

Sialidase Deficiency

Sialidosis, Type I

Glycoprotein Neuraminidase Deficiency

Neuramidase Deficiency

Mucolipidosis Type 1

Type I Mucolipidosis

Sialidosis, Type Ii

Mucolipidosis I

Neug Deficiency

Neu1 Deficiency

Neu Deficiency

Sialidosis

Ml I

Neu

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuraminidase Deficiency, also known as lipomucopolysaccharidosis, is related to neu-laxova syndrome 1 and galactosialidosis. An important gene associated with Neuraminidase Deficiency is NEU1 (Neuraminidase 1). Affiliated tissues include bone marrow and bone, and related phenotypes are seizure and scoliosis

Related ID：

MALACARDS：NRM019

OMIM：256550