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intellectual disability, X-linked 30 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 30

MONDO:0010361

Also known as:PAK3 non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 30, X-linked recessiveintellectual disability, X-linked type 30

Overview

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.

GeneticsX-linked · PAK3 (chr X)

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: Upslanted palpebral fissure, Prominent fingertip pads, Anteverted nares, and Low muscle tone (hypotonia) and others; and very common findings: Poor speech, Aggressive behavior, and Open mouth. 38 total HPO annotations.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300558

GARD

Genetic and Rare Diseases Info Center

GARD:22682

Questions for Your Care Team

→Should female family members consider carrier screening for PAK3?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Poor speech, Bilateral tonic-clonic seizure, Seizure
Head and neck	5	Flat face, Thin upper lip vermilion, High palate
Muscles	2	Low muscle tone (hypotonia), Delayed gross motor development
Arms and legs	1	Prominent fingertip pads
Growth and development	1	Short stature

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, X-linked 30.

73 publications have been identified in PubMed for intellectual disability, X-linked 30. Research spans Basic Science / Preclinical (38%), Clinical Trial Publication (16%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Laboratory research	28	38%
Clinical study results	12	16%
Disease patterns and progression	12	16%
Research summaries	8	11%
Patient case studies	6	8%
Testing and diagnosis research	4	5%
New treatment approaches	3	4%

Recent Publications

Klusek J (2026). [PMID: 41555826](https://pubmed.ncbi.nlm.nih.gov/41555826/). *Journal of Alzheimer's disease : JAD*. [Clinical Trial Publication]
Guerrero-Gonzalez JM (2026). [PMID: 42063232](https://pubmed.ncbi.nlm.nih.gov/42063232/). *Brain Behav*. [Basic Science / Preclinical]
Savvidou A (2026). [PMID: 41980228](https://pubmed.ncbi.nlm.nih.gov/41980228/). *Neurology*. [Epidemiology / Natural History]
Peery E (2026). [PMID: 41208002](https://pubmed.ncbi.nlm.nih.gov/41208002/). *Journal of assisted reproduction and genetics*. [Clinical Trial Publication]
Boelaert K (2026). [PMID: 41508830](https://pubmed.ncbi.nlm.nih.gov/41508830/). *The Journal of clinical endocrinology and metabolism*. [Clinical Trial Publication]
Tkemladze T (2026). [PMID: 41044236](https://pubmed.ncbi.nlm.nih.gov/41044236/). *European journal of human genetics : EJHG*. [Review / Meta-Analysis]
Smolyarchuk EA (2026). [PMID: 41705613](https://pubmed.ncbi.nlm.nih.gov/41705613/). *Ter Arkh*. [Clinical Trial Publication]
Rabin R (2026). [PMID: 41531333](https://pubmed.ncbi.nlm.nih.gov/41531333/). *American journal of medical genetics. Part A*. [Basic Science / Preclinical]
Maltman N (2026). [PMID: 41403372](https://pubmed.ncbi.nlm.nih.gov/41403372/). *Autism : the international journal of research and practice*. [Basic Science / Preclinical]
Byiers B (2026). [PMID: 41340519](https://pubmed.ncbi.nlm.nih.gov/41340519/). *Journal of intellectual disability research : JIDR*. [Epidemiology / Natural History]

Kisho

intellectual disability, X-linked 30

Overview

Clinical Presentation

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

intellectual disability, X-linked 30

Overview

Clinical Presentation

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications