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autosomal dominant non-syndromic intellectual disability - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant non-syndromic intellectual disability

MONDO:0015802

Also known as:autosomal dominant mental retardationautosomal dominant non-syndromic mental retardationnon-syndromic intellectual disability, autosomal dominant

Overview

Autosomal dominant form of non-syndromic intellectual disability.

OnsetCONGENITAL, NEONATAL, CHILDHOOD, INFANTILE

ResearchLimited published research (7 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.

No HPO annotations are available for this condition.

Age of onset: at birth, newborn period, childhood, infancy.

GeneReviews

Clinical Guidance

TRIO-related neurodevelopmental disorder (TRIO-NDD) is characterized by two phenotypes with some overlapping clinical features: TRIO-NDD due to gain-of-function variants and TRIO-NDD due to loss-of-function variants. Individuals with gain-of-function variants often have more severe developmental delay and intellectual disability as well as macrocephaly. Individuals with TRIO loss-of-function variants have mild-to-moderate developmental delay and often have microcephaly. (See for other common and distinguishing features.) To date, 56 individuals have been identified with a pathogenic variant in TRIO and for whom sufficient clinical information was available for the current review [; ; ; ; ; Gazdagh et al, unpublished data]. Table 2. Select Features of TRIO-Related Neurodevelopmental Disorder

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

TRIO-related neurodevelopmental disorder (TRIO-NDD) should be considered in individuals with any combination of the following clinical findings:

Source: GeneReviews — "TRIO-Related Neurodevelopmental Disorder"

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 autosomal dominant non-syndromic intellectual disability. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for TRIO-related neurodevelopmental disorder (TRIO-NDD) have been published. Evaluations and Referrals Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with TRIO-NDD, the evaluations and referrals summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis of TRIO-Related Neurodevelopmental Disorder

Prognosis

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

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. Recommended Surveillance for Individuals with TRIO-Related Neurodevelopmental Disorder

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 autosomal dominant non-syndromic intellectual disability.

7 publications have been identified in PubMed for autosomal dominant non-syndromic intellectual disability. Research spans Case Report / Case Series (71%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (14%).

Recent Publications

Liao B (2025). [PMID: 39902220](https://pubmed.ncbi.nlm.nih.gov/39902220/). *Frontiers in neurology*. [Case Report / Case Series]
Lin S (2025). [PMID: 41190004](https://pubmed.ncbi.nlm.nih.gov/41190004/). *Frontiers in pediatrics*. [Case Report / Case Series]
Xu Z (2025). [PMID: 41111978](https://pubmed.ncbi.nlm.nih.gov/41111978/). *Frontiers in neurology*. [Case Report / Case Series]
Aldoseri AA (2024). [PMID: 38566780](https://pubmed.ncbi.nlm.nih.gov/38566780/). *Cureus*. [Case Report / Case Series]
Li C (2024). [PMID: 39528574](https://pubmed.ncbi.nlm.nih.gov/39528574/). *Scientific reports*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 11:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:178469

GARD

Genetic and Rare Diseases Info Center

GARD:12107

Questions for Your Care Team

→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

Feature	Proportion of Persons w/Feature	Comment
Developmental delay (DD)	20/20	36/36
Intellectual disability	~20/20	Common
Neurobehavioral manifestations	15/18	29/31
Seizures	~7/19	~7/29
Macrocephaly	11/18	2/35
Microcephaly	–	25/35
Infant feeding difficulties	12/17	19/28
Poor weight gain/ Early growth deficiency	8/10	8/11
Constipation	6/16	12/26
Short /or tapering fingers	6/17	14/31
2-3 toe syndactyly	–	5/15
Scoliosis	7/16	4/27
Dysmorphic facial features	Common	Common
Dental abnormalities	5/15	17/29
Cardiac anomalies	2/18	3/26

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Neurobehavioral/
Psychiatric	Neuropsychiatric eval	In persons age 12 mos: screening for ADHD, aggression, /or findings suggestive of ASD
Neurologic	Neurologic eval	To incl brain MRI, as clinically indicated; Consider EEG if seizures are a concern in those who have LOF or truncating variant.
Growth	Assessment of growth parameters to identify those w/poor weight gain	Gastroenterology/
Feeding	Assessment for feeding issues, incl difficulty w/sucking/swallowing, GERD, constipation	Refer to feeding therapist if feeding issues are identified.
Musculoskeletal	Clinical eval for scoliosis /or kyphosis	Radiographic scoliosis survey (spinal x-rays) based on clinical suspicion; Consider referral to orthopedic surgeon if scoliosis is present.
Dental	Eval for dental crowding /or failed/delayed eruption	Consider referral to dentist or orthodontist.
Cardiovascular	Eval for structural or conduction anomalies	Consider referral based on clinical judgement.; Echocardiography EKG as indicated
Immunology	Assess for history of recurrent infections.	If present, consider referral to immunologist.
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of TRIO-NDD to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with TRIO-Related Neurodevelopmental Disorder Manifestation/Concern	Treatment	Considerations/Other Developmental delay/ Intellectual disability/
Neurobehavioral issues	See .	—
Seizures	Standard treatment(s) as recommended by neurologist	Feeding issues/ Poor weight gain
GERD /or constipation	Standard treatment(s)	Scoliosis/
Kyphosis	Standard treatment as recommended by orthopedist	Dental crowding/
Malocclusion	Standard treatment as recommended by dentist/orthodontist	—
Cardiovascular	Standard treatment as recommended by cardiologist	—
Recurrent infections	Mgmt per immunologist	GERD = gastroesophageal reflux disease The following information represents typical management recommendations for individuals with developmental delay/ intellectual disability in the US; standard recommendations may vary from country to country. Ages 0-3 years.

Kisho

autosomal dominant non-syndromic intellectual disability

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

autosomal dominant non-syndromic intellectual disability

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials