Cherry Red Spot Myoclonus Syndrome

Cherry Red Spot-Myoclonus Syndrome

Deficiencies, Glycoprotein Neuraminidase

Deficiency Disease, Ganglioside Sialidase

Deficiency, Glycoprotein Neuraminidase

Ganglioside Sialidase Deficiency Disease

Glycoprotein Neuraminidase Deficiencies

Glycoprotein Neuraminidase Deficiency

I Cell Disease

I-Cell Disease

I-Cell Diseases

Inclusion Cell Disease

Inclusion Cell Diseases



Mucolipidoses, Type I

Mucolipidoses, Type II

Mucolipidoses, Type III

Mucolipidoses, Type IV


Mucolipidosis I

Mucolipidosis II

Mucolipidosis III

Mucolipidosis III Alpha Beta

Mucolipidosis IIIa

Mucolipidosis IV

Mucolipidosis Type 1

Mucolipidosis Type I

Mucolipidosis Type II

Mucolipidosis Type III

Mucolipidosis Type IV

Mucolipidosis, Type I

Mucolipidosis, Type II

Mucolipidosis, Type III

Mucolipidosis, Type IV

Myoclonus Cherry Red Spot Syndrome

Myoclonus-Cherry Red Spot Syndrome

Polydystrophy, Pseudo-Hurler

Pseudo Hurler Polydystrophy

Pseudo-Hurler Polydystrophy

Psuedo Hurler Disease

Psuedo-Hurler Disease

Psuedo-Hurler Diseases





Type I Mucolipidoses

Type I Mucolipidosis

Type II Mucolipidoses

Type II Mucolipidosis

Type III Mucolipidoses

Type III Mucolipidosis

Type IV Mucolipidoses

Type IV Mucolipidosis

A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)