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syndromic X-linked intellectual disability Nascimento type - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Short foot, Dry skin, Broad hallux, and Hypointensity of cerebral white matter on MRI and others; and very common findings: Wide intermamillary distance, Hirsutism, Wide mouth, and Micropenis. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Poor speech, Seizure, Aggressive behavior
Arms and legs	2	Short foot, 2-3 toe syndactyly
Head and neck	2	Broad face, Macrocephaly
Skin	2	Dry skin, Nail dystrophy
Kidneys and urinary system	1	Horseshoe kidney

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 syndromic X-linked intellectual disability Nascimento type.

102 publications have been identified in PubMed for syndromic X-linked intellectual disability Nascimento type. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (28%), and Case Report / Case Series (22%).

Research Type	Count	% of Total
Laboratory research	32	33%
Research summaries	27	28%
Patient case studies	21	22%
Disease patterns and progression	11	11%
New treatment approaches	3	3%
Testing and diagnosis research	2	2%
Clinical study results	1	1%

Recent Publications

Sidorina A (2026). [PMID: 41429203](https://pubmed.ncbi.nlm.nih.gov/41429203/). *J Lipid Res*. [Diagnostic / Biomarker]
Zhao Y (2026). [PMID: 41705901](https://pubmed.ncbi.nlm.nih.gov/41705901/). *Prenat Diagn*. [Review / Meta-Analysis]
Boelaert K (2026). [PMID: 41508830](https://pubmed.ncbi.nlm.nih.gov/41508830/). *J Clin Endocrinol Metab*. [Review / Meta-Analysis]
Weissgold S (2026). [PMID: 42028919](https://pubmed.ncbi.nlm.nih.gov/42028919/). *J Intellect Disabil Res*. [Review / Meta-Analysis]
Alexander JL (2026). [PMID: 41346295](https://pubmed.ncbi.nlm.nih.gov/41346295/). *Blood Adv*. [Basic Science / Preclinical]
Furtado Gomes I (2025). [PMID: 40156274](https://pubmed.ncbi.nlm.nih.gov/40156274/). *Clin Dysmorphol*. [Case Report / Case Series]
Arsenault LE (2025). [PMID: 40600106](https://pubmed.ncbi.nlm.nih.gov/40600106/). *Cureus*. [Case Report / Case Series]
Ali U (2025). [PMID: 41331337](https://pubmed.ncbi.nlm.nih.gov/41331337/). *Sci Rep*. [Basic Science / Preclinical]
Ito S (2025). [PMID: 40702043](https://pubmed.ncbi.nlm.nih.gov/40702043/). *Sci Rep*. [Gene Therapy / Novel Therapeutics]
Azar I (2025). [PMID: 40330142](https://pubmed.ncbi.nlm.nih.gov/40330142/). *JCO Oncol Adv*. [Basic Science / Preclinical]

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syndromic X-linked intellectual disability Nascimento type

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

syndromic X-linked intellectual disability Nascimento type

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