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snijders blok-fisher syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

snijders blok-fisher syndrome

MONDO:0032830

Also known as:SNIBFIS

Overview

GeneticsAutosomal dominant · POU3F3 (chr 2)

OnsetINFANTILE, CONGENITAL

ResearchLimited published research (1 article)

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: Delayed speech and language development, Global developmental delay, and Intellectual disability; and common findings: Sleep disturbance, Generalized hypotonia, Autistic behavior, and Drooling and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed speech and language development, Seizure, Global developmental delay

Genetic Landscape

POU3F3 function has not been fully characterized.

Snijders blok-fisher syndrome is associated with mutations in the POU3F3 gene on chromosome 2.

Diagnosis

Genetic testing for POU3F3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 6 common features.

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 snijders blok-fisher syndrome.

1 publication has been identified in PubMed for snijders blok-fisher syndrome. Research spans Basic Science / Preclinical (100%).

Recent Publications

Tao Y (2025). [PMID: 40626178](https://pubmed.ncbi.nlm.nih.gov/40626178/). *Front Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618604

Orphanet

European rare disease database

Orphanet:656135

Questions for Your Care Team

→Should I pursue genetic testing for POU3F3, 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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snijders blok-fisher syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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