mucolipidosis type IV

A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.

Signs and symptoms

• Progressive neurologic deterioration
• Dysplastic corpus callosum
• Opacification of the corneal stroma
• Corneal opacity
• Ganglioside accumulation
• Strabismus
• Dystonia
• Cerebellar atrophy
• Hypotonia
• Generalized hypotonia