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hydrocephalus, congenital, 3, with brain anomalies (HYC3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydrocephalus, congenital, 3, with brain anomalies

MONDO:0054794

Also known as:HYC3hydrocephalus, nonsyndromic, autosomal recessive 3hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Overview

GeneticsAutosomal recessive · WDR81 (chr 17)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Hydrocephalus; and common findings: Cerebellar agenesis. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Brain atrophy, Hydrocephalus, Enlarged brain ventricles (ventriculomegaly)

Genetic Landscape

WDR81 function has not been fully characterized.

Hydrocephalus, congenital, 3, with brain anomalies is associated with mutations in the WDR81 gene on chromosome 17.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for WDR81 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hydrocephalus, congenital, 3, with brain anomalies has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 1 common feature.

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 hydrocephalus, congenital, 3, with brain anomalies.

46 publications have been identified in PubMed for hydrocephalus, congenital, 3, with brain anomalies. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	16	35%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617967

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hydrocephalus, congenital, 3, with brain anomalies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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hydrocephalus, congenital, 3, with brain anomalies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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