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mucolipidosis IV
(redirected from Mucolipidosis type IV)

    Also found in: Wikipedia 0.03 sec.
mucolipidosis IV
n.
Mucolipidosis marked by psychomotor retardation, cloudy corneas, and retinal degeneration, with the presence of inclusion bodies in cultured fibroblasts.
mucolipidosis IV,
an autosomal-recessive disorder characterized by psychomotor retardation and severe visual impairment, initially manifest in infancy or childhood as corneal clouding. Sialic acid-containing gangliosides are accumulated as a result of deficient ganglioside sialidase activity. However, the deficiency is not believed to be the primary defect.


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