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intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency (MRD23) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Intellectual disability, Delayed speech and language development, Global developmental delay
Bones and joints	3	Excessive inward curvature of the lower spine (hyperlordosis), Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis)
Eyes	2	Strabismus, Ptosis
Arms and legs	2	Lower limb asymmetry, Broad distal phalanx of finger
Head and neck	1	Thin upper lip vermilion
Digestive system	1	Feeding difficulties

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 disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency.

19 publications have been identified in PubMed for intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency. Research spans Epidemiology / Natural History (32%), Case Report / Case Series (26%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Disease patterns and progression	6	32%
Patient case studies	5	26%
Research summaries	4	21%
Laboratory research	2	11%
Testing and diagnosis research	1	5%
New treatment approaches	1	5%

Recent Publications

Wang B (2026). [PMID: 41527140](https://pubmed.ncbi.nlm.nih.gov/41527140/). *J Med Case Rep*. [Review / Meta-Analysis]
Kostopoulou E (2026). [PMID: 42065018](https://pubmed.ncbi.nlm.nih.gov/42065018/). *Case Rep Neurol Med*. [Case Report / Case Series]
Yue X (2025). [PMID: 40598692](https://pubmed.ncbi.nlm.nih.gov/40598692/). *Clin Endocrinol (Oxf)*. [Gene Therapy / Novel Therapeutics]
Iwaizumi M (2025). [PMID: 39780213](https://pubmed.ncbi.nlm.nih.gov/39780213/). *Hered Cancer Clin Pract*. [Case Report / Case Series]
Fan J (2025). [PMID: 41368699](https://pubmed.ncbi.nlm.nih.gov/41368699/). *Birth Defects Res*. [Review / Meta-Analysis]
Pizzol A (2025). [PMID: 39494522](https://pubmed.ncbi.nlm.nih.gov/39494522/). *Am J Med Genet A*. [Epidemiology / Natural History]
Hirano Y (2025). [PMID: 40455867](https://pubmed.ncbi.nlm.nih.gov/40455867/). *Brain*. [Basic Science / Preclinical]
Ferroul F (2025). [PMID: 41005613](https://pubmed.ncbi.nlm.nih.gov/41005613/). *Eur J Med Genet*. [Case Report / Case Series]
Kafshboran HR (2025). [PMID: 39925447](https://pubmed.ncbi.nlm.nih.gov/39925447/). *Glob Med Genet*. [Case Report / Case Series]
Videla L (2025). [PMID: 40528282](https://pubmed.ncbi.nlm.nih.gov/40528282/). *Alzheimers Dement*. [Review / Meta-Analysis]

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intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team