Infantile cerebellar-retinal degeneration

Definition

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Disease data

Classification

Disease

ORPHA code

313850

OMIM code

614559

ICD10 code

E88.8

ICD11 code

*Soruce