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neuroocular syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuroocular syndrome 1

MONDO:0971007

Also known as:multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

Overview

A neuroocular syndrome caused by a mutation in PRR12 gene. It encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly.

GeneticsAutosomal dominant · PRR12 (chr 19)

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: Intellectual disability, Stellate iris, Motor delay, and Exotropia and others; and common findings: Prominent fingertip pads, Short stature, Tibial torsion, and Deep palmar crease and others. 73 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Intellectual disability, Global developmental delay, Excessive daytime somnolence

Genetic Landscape

PRR12 function has not been fully characterized.

Neuroocular syndrome 1 is associated with mutations in the PRR12 gene on chromosome 19.

Diagnosis

Genetic testing for PRR12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuroocular syndrome 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 60 common features.

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 neuroocular syndrome 1.

31 publications have been identified in PubMed for neuroocular syndrome 1. Research spans Basic Science / Preclinical (45%), Review / Meta-Analysis (23%), and Case Report / Case Series (10%).

Research Type	Count	% of Total
Laboratory research	14	45%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619539

Orphanet

European rare disease database

Orphanet:659904

Questions for Your Care Team

→Should I pursue genetic testing for PRR12, 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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neuroocular syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neuroocular syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications