infantile cerebellar-retinal degeneration

A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.

Signs and symptoms

• Ataxia
• Severe intellectual disability
• Retinal dystrophy
• Severe global developmental delay
• Athetosis
• Decreased body weight
• Hypotonia
• Optic atrophy
• Bilateral tonic-clonic seizure
• Cerebral cortical atrophy