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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2246
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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