Cerebellar hypoplasia-tapetoretinal degeneration syndrome

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Cerebellar hypoplasia-tapetoretinal degeneration syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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