Cerebellar hypoplasia tapetoretinal degeneration

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Definition

Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.

NIH genetic and rare disease info

Cerebellar hypoplasia tapetoretinal degeneration is a rare disease.

Rare and genetic diseases

Rare diseases - Cerebellar hypoplasia tapetoretinal degeneration

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Cerebellar hypoplasia tapetoretinal degeneration

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