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neurodevelopmental disorder with speech impairment and dysmorphic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with speech impairment and dysmorphic facies

MONDO:0033630

Also known as:NEDSID

Overview

GeneticsAutosomal dominant · SETD1A (chr 16)

OnsetANTENATAL

ResearchLimited published research (8 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 always present findings: Delayed speech and language development; and very common findings: Motor delay, Intellectual disability, and Global developmental delay. 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Seizure, Aggressive behavior, Anxiety

Genetic Landscape

SETD1A function has not been fully characterized.

Neurodevelopmental disorder with speech impairment and dysmorphic facies is associated with mutations in the SETD1A gene on chromosome 16.

Diagnosis

Genetic testing for SETD1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 15 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 neurodevelopmental disorder with speech impairment and dysmorphic facies.

8 publications have been identified in PubMed for neurodevelopmental disorder with speech impairment and dysmorphic facies. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Other (13%).

Recent Publications

Cohen R (2026). [PMID: 41311105](https://pubmed.ncbi.nlm.nih.gov/41311105/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Sedláčková L (2026). [PMID: 41914216](https://pubmed.ncbi.nlm.nih.gov/41914216/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Dantam CR (2025). [PMID: 40760574](https://pubmed.ncbi.nlm.nih.gov/40760574/). *Medicine*. [Case Report / Case Series]
Al Ojaimi M (2025). [PMID: 40301961](https://pubmed.ncbi.nlm.nih.gov/40301961/). *Human genomics*. [Review / Meta-Analysis]
Ghosh S (2025). [PMID: 41058046](https://pubmed.ncbi.nlm.nih.gov/41058046/). *Brain : a journal of neurology*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619056

GARD

Genetic and Rare Diseases Info Center

GARD:18530

Questions for Your Care Team

→Should I pursue genetic testing for SETD1A, 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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neurodevelopmental disorder with speech impairment and dysmorphic facies

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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