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developmental delay with variable intellectual impairment and behavioral abnormalities - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental delay with variable intellectual impairment and behavioral abnormalities

MONDO:0032745

Also known as:DDVIBATCF20-related disorder

Overview

A neurodevelopmental disorder caused by a mutation in TCF gene, characterized by impaired intellectual development with speech difficulties and behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity.

GeneticsAutosomal dominant · TCF20 (chr 22)

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: Mild intellectual disability, Low muscle tone (hypotonia), Tall stature, and Accelerated skeletal maturation and others; and common findings: Seizure, Ataxia, Aggressive behavior, and Gynecomastia and others. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Mild intellectual disability, Seizure, Ataxia

Genetic Landscape

TCF20 function has not been fully characterized.

Developmental delay with variable intellectual impairment and behavioral abnormalities is caused by mutations in the TCF20 gene on chromosome 22.

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 TCF20 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental delay with variable intellectual impairment and behavioral abnormalities has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 8 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 developmental delay with variable intellectual impairment and behavioral abnormalities.

195 publications have been identified in PubMed for developmental delay with variable intellectual impairment and behavioral abnormalities. Kisho has analyzed 49 by research type. Research spans Review / Meta-Analysis (37%), Basic Science / Preclinical (27%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Research summaries	18

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 12:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618430

GARD

Genetic and Rare Diseases Info Center

GARD:18517

Questions for Your Care Team

→Should I pursue genetic testing for TCF20, 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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Kisho

developmental delay with variable intellectual impairment and behavioral abnormalities

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental delay with variable intellectual impairment and behavioral abnormalities

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications