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intellectual disability, X-linked 102 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Intellectual disability; and common findings: Decreased body weight, Strabismus, Low muscle tone (hypotonia), and Enlarged brain ventricles (ventriculomegaly) and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Aggressive behavior, Enlarged brain ventricles (ventriculomegaly)
Head and neck	4	Microcephaly, Cleft palate, Long face
Ears	1	Hearing loss (hearing impairment)
Eyes	1	Strabismus
Muscles	1	Low muscle tone (hypotonia)
Bones and joints	1	Sideways curvature of the spine (scoliosis)
Lungs and breathing	1	Dysplastic pulmonary valve
Hormones	1	Precocious puberty

GeneReviews

Clinical Guidance

DDX3X-related neurodevelopmental disorder (DDX3X-NDD) typically occurs in females and rarely in males. DDX3X-NDD in both females and males is associated with a broad spectrum of clinical features with variable expression and severity. presents the most common clinical characteristics observed in the three largest cohorts of females with DDX3X-NDD observed to date comprising a total of 149 unique individuals . Note that data from individuals included in more than one report were removed. Data from four smaller reports are included in the discussion following [, , , ]. Characteristics typically present are intellectual disability (ID), tone abnormalities, and associated feeding difficulty, joint laxity, and scoliosis. Other common features include ophthalmologic abnormalities, hearing loss, congenital heart defects, and respiratory difficulties. Neuroblastoma has been observed in three individuals, all of whom presented early in life and responded favorably to treatment. Table 2. Clinical Findings in Females with DDX3X-Related Neurodevelopmental Disorder

Finding	Report 1	Report 2	Report 3

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for intellectual disability, X-linked 102. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with DDX3X-related neurodevelopmental disorder (DDX3X-NDD), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with DDX3X-Related Neurodevelopmental Disorder

System/Concern	Evaluation	Comment
Constitutional	Assess height, weight, head circumference.	Check for evidence of FTT.
Neurodevelopment	Neurodevelopmental assessment to identify delays	To incl motor, speech-language eval, general cognitive, adaptive skills by available appropriate services (e.g., eval by early intervention program (ages 0-3 yrs), public school district (ages 3-21 yrs), or possibly by developmental/behavioral pediatrician
Speech language	Eval by speech-language pathologist	Assessment of speech, language, communication abilities
Neurologic	Neurologic eval for hypotonia, movement disorder, spasticity	If seizures are suspected: EEG consideration of brain MRI Psychiatric/
Behavioral	Consider assessment by behavioral pediatrician to assess maladaptive behaviors or by psychiatrist for more severe behavioral issues.

Source: GeneReviews — "DDX3X-Related Neurodevelopmental Disorder"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "DDX3X-Related Neurodevelopmental Disorder"

Clinical Trials

View trials for intellectual disability, X-linked 102

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Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with DDX3X-Related Neurodevelopmental Disorder

System/Concern	Evaluation	Frequency
Constitutional	Measure height, weight, BMI, head circumference.	Annually or more frequently if FTT
Eyes	Ophthalmologic eval	Annually or more frequently as needed
Hearing	Audiologic assessment	Reevaluate as needed for suspected hearing loss. Gastrointestinal/
Feeding	Assess nutritional status feeding w/attention to poor weight gain, choking/gagging during feeds, feeding refusal not otherwise explained.	Annually or more frequently if FTT Musculoskeletal
Development	Monitor developmental progress educational needs.	Every 6 mos, then annually when school aged
Endocrine	Monitor for evidence of precocious puberty.	Starting at age 8 yrs Psychiatric/
Behavioral	Eval by developmental psychologist	As needed Miscellaneous/
Other	Assess family need for social work support, other local resources.	Annually or more frequently as needed FTT = failure to thrive; PT = physical therapy

Source: GeneReviews — "DDX3X-Related Neurodevelopmental Disorder"

Phenotype severity distribution: 1 always present feature, 9 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 intellectual disability, X-linked 102.

13 publications have been identified in PubMed for intellectual disability, X-linked 102. Research spans Basic Science / Preclinical (31%), Clinical Trial Publication (23%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Laboratory research	4	31%
Clinical study results	3	23%
Research summaries	2	15%
Testing and diagnosis research	1	8%
Patient case studies	1	8%
Disease patterns and progression	1	8%
New treatment approaches	1	8%

Recent Publications

Lund TC (2026). [PMID: 41663336](https://pubmed.ncbi.nlm.nih.gov/41663336/). *Journal of inherited metabolic disease*. [Gene Therapy / Novel Therapeutics]
Shu-Ting Q (2025). [PMID: 40082233](https://pubmed.ncbi.nlm.nih.gov/40082233/). *Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae*. [Review / Meta-Analysis]
Gidado KI (2025). [PMID: 39638232](https://pubmed.ncbi.nlm.nih.gov/39638232/). *Neuroscience*. [Review / Meta-Analysis]
Toyama Y (2025). [PMID: 40877262](https://pubmed.ncbi.nlm.nih.gov/40877262/). *Nature communications*. [Basic Science / Preclinical]
Ferrer RM (2025). [PMID: 39704488](https://pubmed.ncbi.nlm.nih.gov/39704488/). *Journal of inherited metabolic disease*. [Basic Science / Preclinical]
Mochalova DA (2025). [PMID: 40350736](https://pubmed.ncbi.nlm.nih.gov/40350736/). *Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova*. [Case Report / Case Series]
Belenska-Todorova L (2025). [PMID: 40558542](https://pubmed.ncbi.nlm.nih.gov/40558542/). *Cells*. [Diagnostic / Biomarker]
Lebeda D (2024). [PMID: 38430393](https://pubmed.ncbi.nlm.nih.gov/38430393/). *Journal of molecular medicine (Berlin, Germany)*. [Epidemiology / Natural History]
Eichler F (2024). [PMID: 39383459](https://pubmed.ncbi.nlm.nih.gov/39383459/). *The New England journal of medicine*. [Clinical Trial Publication]
Okuzono S (2024). [PMID: 38964745](https://pubmed.ncbi.nlm.nih.gov/38964745/). *Genes to cells : devoted to molecular & cellular mechanisms*. [Basic Science / Preclinical]

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intellectual disability, X-linked 102

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

intellectual disability, X-linked 102

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team