Cerebellar Hypoplasia Tapetoretinal Degeneration

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2246 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 . Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebellar Hypoplasia Tapetoretinal Degeneration is related to cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay.

Search Clinical Trials , NIH Clinical Center for Cerebellar Hypoplasia Tapetoretinal Degeneration

Search GEO for disease gene expression data for Cerebellar Hypoplasia Tapetoretinal Degeneration.