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hydrocephaly-cerebellar agenesis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydrocephaly-cerebellar agenesis syndrome

MONDO:0010612

Also known as:X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndromecerebellum agenesis hydrocephalyhydrocephalus with cerebellar agenesis

Overview

This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.

Diagnosis

Biomarker and diagnostic research for hydrocephaly-cerebellar agenesis 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 hydrocephaly-cerebellar agenesis syndrome.

232 publications have been identified in PubMed for hydrocephaly-cerebellar agenesis syndrome. Kisho has analyzed 78 by research type. Research spans Review / Meta-Analysis (58%), Case Report / Case Series (24%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Research summaries	45	58%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:307010

Orphanet

European rare disease database

Orphanet:1397

GARD

Genetic and Rare Diseases Info Center

GARD:1200

Questions for Your Care Team

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hydrocephaly-cerebellar agenesis syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications