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cerebellar hypoplasia-tapetoretinal degeneration syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebellar hypoplasia-tapetoretinal degeneration syndrome

MONDO:0016392

Also known as:cerebellar hypoplasia tapetoretinal degeneration

Overview

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.

Diagnosis

Biomarker and diagnostic research for cerebellar hypoplasia-tapetoretinal degeneration syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cerebellar hypoplasia-tapetoretinal degeneration syndrome.

137 publications have been identified in PubMed for cerebellar hypoplasia-tapetoretinal degeneration syndrome. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	55	40%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2246

GARD

Genetic and Rare Diseases Info Center

GARD:1196

Questions for Your Care Team

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cerebellar hypoplasia-tapetoretinal degeneration syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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