Infantile cerebellar-retinal degeneration

Orpha code: 313850OMIM code: 614559

Definicja

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
Klasyfikacja

Disease

Kod ORPHA
313850
Kod OMIM
614559
Kod ICD10
E88.8
Kod ICD11
-

No additional description.

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