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intellectual developmental disorder, autosomal dominant 64 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal dominant 64

MONDO:0030934

Also known as:ZNF292-related syndromeMRD64ZNF292-related neurodevelopmental disorder

Overview

GeneticsAutosomal dominant · ZNF292 (chr 6)

ResearchLimited published research (4 articles)

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: Delayed speech and language development and Global developmental delay; and common findings: Low muscle tone (hypotonia), Hypertelorism, Feeding difficulties, and Autistic behavior and others. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Seizure, Enlarged brain ventricles (ventriculomegaly), Intellectual disability

Genetic Landscape

ZNF292 function has not been fully characterized.

Intellectual developmental disorder, autosomal dominant 64 is associated with mutations in the ZNF292 gene on chromosome 6.

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 ZNF292 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, autosomal dominant 64 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 7 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 intellectual developmental disorder, autosomal dominant 64.

4 publications have been identified in PubMed for intellectual developmental disorder, autosomal dominant 64. Research spans Other (25%), Diagnostic / Biomarker (25%), and Review / Meta-Analysis (25%).

Recent Publications

Kessler L (2025). [PMID: 39663844](https://pubmed.ncbi.nlm.nih.gov/39663844/). *Clin Genet*. [Diagnostic / Biomarker]
Spedicati B (2025). [PMID: 41153384](https://pubmed.ncbi.nlm.nih.gov/41153384/). *Genes (Basel)*. [Case Report / Case Series]
Tzetis M (2025). [PMID: 40428343](https://pubmed.ncbi.nlm.nih.gov/40428343/). *Genes (Basel)*. [Review / Meta-Analysis]
Braga BL (2025). [PMID: 39586716](https://pubmed.ncbi.nlm.nih.gov/39586716/). *Clin Genet*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619188

GARD

Genetic and Rare Diseases Info Center

GARD:16478

Questions for Your Care Team

→Should I pursue genetic testing for ZNF292, 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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intellectual developmental disorder, autosomal dominant 64

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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