ML IV

Crucial
It is feasible that the major title of the report Mucolipidosis IV is not the name you expected. Kindly inspect the synonyms providing to locate the alternating name(s) and condition subdivision(s) covered by this record.

Words

• ML Disorder IV
• ML IV
• Berman Disorder
• Ganglioside Sialidase Shortage
• Ganglioside Neuraminidase Deficiency
• Neuraminidase Shortage
• Sialolipidosis

Condition Communities

• None

General Discussion
Mucolipidosis IV is a rare metabolic disorder defined by intellectual disability; extreme disability in the acquisition of skills requiring the coordination of muscle as well as psychological activities (psychomotor retardation); reduced muscular tissue tone (hypotonia); clouding (opacity) of the clear section of the eyes through which light passes (cornea); as well as progressive degeneration of the nerve-rich membrane lining the eyes (retinal degeneration). Mucolipidosis IV is inherited as an autosomal recessive genetic quality as well as dued to mutations in the MCOLN1 gene.