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neurooculocardiogenitourinary syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurooculocardiogenitourinary syndrome

MONDO:0032850

Also known as:NOCGUS

Overview

GeneticsAutosomal dominant · WDR37 (chr 10)

OnsetNEONATAL, CONGENITAL

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 always present findings: Seizure, Abnormality of the palmar creases, Smooth philtrum, and Downturned corners of mouth and others; and very common findings: High forehead and Coloboma. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Intellectual disability, Absent speech

Genetic Landscape

WDR37 function has not been fully characterized.

Neurooculocardiogenitourinary syndrome is caused by mutations in the WDR37 gene on chromosome 10.

Diagnosis

Genetic testing for WDR37 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 2 very common features, 11 common features.

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

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618652

Orphanet

European rare disease database

Orphanet:684305

Questions for Your Care Team

→Should I pursue genetic testing for WDR37, and what would the results mean for my family?
→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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neurooculocardiogenitourinary syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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