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global developmental delay with speech and behavioral abnormalities (GDSBA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

global developmental delay with speech and behavioral abnormalities

MONDO:0030995

Also known as:GDSBA

Overview

GeneticsAutosomal dominant · TNRC6B (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: Intellectual disability and Global developmental delay; and very common findings: Delayed fine motor development and Delayed speech and language development. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Seizure, Delayed fine motor development, Intellectual disability

Genetic Landscape

TNRC6B function has not been fully characterized.

Global developmental delay with speech and behavioral abnormalities is associated with mutations in the TNRC6B 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 TNRC6B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for global developmental delay with speech and behavioral abnormalities has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 5 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 global developmental delay with speech and behavioral abnormalities.

43 publications have been identified in PubMed for global developmental delay with speech and behavioral abnormalities. Research spans Case Report / Case Series (58%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	25	58%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619243

GARD

Genetic and Rare Diseases Info Center

GARD:18541

Questions for Your Care Team

→Should I pursue genetic testing for TNRC6B, 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

global developmental delay with speech 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

global developmental delay with speech 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