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intellectual disability, autosomal dominant 29 (MRD29) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include very common findings: Motor delay and Delayed speech and language development; and common findings: Low muscle tone (hypotonia), Broad hallux, Hypertelorism, and Intellectual disability and others. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Seizure, Aphasia, Aggressive behavior
Head and neck	4	Narrow palate, Thin upper lip vermilion, High palate
Eyes	3	Strabismus, Ptosis, Visual impairment
Bones and joints	2	Excessive inward curve of the lower back (lumbar hyperlordosis), Excessive inward curvature of the lower spine (hyperlordosis)
Ears	1	Hearing loss (hearing impairment)
Muscles	1	Low muscle tone (hypotonia)
Arms and legs	1	Cutaneous finger syndactyly

GeneReviews

Clinical Guidance

The most common clinical manifestations of SETBP1 haploinsufficiency disorder (SETBP1-HD) are mild motor developmental delay and hypotonia, speech and language disorder, intellectual disability, attention-deficit/hyperactivity disorder (ADHD), and refractive errors and strabismus. To date, 47 individuals with SETBP1-HD have been reported . The following description of the phenotypic features associated with this condition is based on these reports.

Table 2.

SETBP1 Haploinsufficiency Disorder: Frequency of Select Features

Feature | Frequency of Feature

Delayed motor milestones | 90%

Speech and language disorder | 95%

Intellectual disability | Mild | ≤30%

Moderate | ~30%

Severe | ~20%

Normal or borderline IQ | 20%

Behavior problems | ADHD-like | 75%

Other | 13%-25%

Feeding difficulties | 60%

Source: GeneReviews — "SETBP1 Haploinsufficiency 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 intellectual disability, autosomal dominant 29. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for SETBP1 haploinsufficiency disorder (SETBP1-HD) have been published. Management recommendations below are based on information in the current literature and the Authors' clinical experience. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with SETBP1 haploinsufficiency disorder, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with SETBP1 Haploinsufficiency Disorder

System/Concern	Evaluation	Comment
Constitutional	Height, weight	DD in general (language, social, motor, /or
cognitive)	Developmental assessment (by school system, neurologist, /or developmental medicine)	Assess developmental skills (incl cognitive, language, social, motor, adaptive) need for developmental services. Speech language
disorder	Speech-language pathology eval	Evaluate speech production receptive/expressive language in all children regardless of age.
concerns	Neurologic, psychiatry, /or developmental medicine eval	To screen for behavioral concerns incl ADHD, impulsivity, anxiety, sleep disturbances, /or those suggestive of ASD
Ophthalmologic involvement

Source: GeneReviews — "SETBP1 Haploinsufficiency 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 — "SETBP1 Haploinsufficiency Disorder"

Clinical Trials

View trials for intellectual disability, autosomal dominant 29

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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 7. Recommended Surveillance for Individuals with SETBP1 Haploinsufficiency Disorder

System/Concern	Evaluation	Frequency
neurodevelopment	Monitor developmental progress educational needs.	As recommended by neurologist or developmental pediatrician overseeing neurodevelopment Speech language disorder
Motor delay	OT/PT assessment of mobility, self-help skills, as well as ongoing therapy	As recommended by OT/PT
Skeletal	Monitor skeletal or neuromuscular problems.	As recommended by treating pediatrician or neurologist Psychiatric/ behavioral
concerns	Behavioral assessment for signs of ADHD, ASD, anxiety, aggressive behavior, /or sleep disturbances	As recommended by treating neurologist, developmental pediatrician, or psychiatrist Feeding
Neurologic	Evaluate those w/seizures as clinically indicated.	As recommended by treating neurologist Assess for new manifestations such as seizures, changes in tone, movement disorders.
involvement	By treating ophthalmologist	As recommended by ophthalmologist Digestive
problems	By treating gastroenterologist	As recommended by gastroenterologist Family/

Source: GeneReviews — "SETBP1 Haploinsufficiency Disorder"

Phenotype severity distribution: 2 very common features, 12 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, autosomal dominant 29.

100 publications have been identified in PubMed for intellectual disability, autosomal dominant 29. Research spans Basic Science / Preclinical (47%), Review / Meta-Analysis (19%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Laboratory research	47	47%
Research summaries	19	19%
Patient case studies	14	14%
Disease patterns and progression	11	11%
Clinical study results	5	5%
Testing and diagnosis research	2	2%
Other research	1	1%
New treatment approaches	1	1%

Recent Publications

Lee E (2026). [PMID: 41556401](https://pubmed.ncbi.nlm.nih.gov/41556401/). *Human molecular genetics*. [Basic Science / Preclinical]
Maroni MJ (2026). [PMID: 40494548](https://pubmed.ncbi.nlm.nih.gov/40494548/). *Brain : a journal of neurology*. [Review / Meta-Analysis]
Howard MA (2026). [PMID: 41640626](https://pubmed.ncbi.nlm.nih.gov/41640626/). *Biological psychiatry global open science*. [Basic Science / Preclinical]
Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clin Genet*. [Epidemiology / Natural History]
Young RE (2026). [PMID: 40931319](https://pubmed.ncbi.nlm.nih.gov/40931319/). *Clinical genetics*. [Basic Science / Preclinical]
Pan J (2025). [PMID: 41282480](https://pubmed.ncbi.nlm.nih.gov/41282480/). *Frontiers in genetics*. [Case Report / Case Series]
Colson C (2025). [PMID: 39837771](https://pubmed.ncbi.nlm.nih.gov/39837771/). *Clinical genetics*. [Review / Meta-Analysis]
Bhattacharjee R (2025). [PMID: 40651286](https://pubmed.ncbi.nlm.nih.gov/40651286/). *Current opinion in genetics & development*. [Review / Meta-Analysis]
Engel C (2025). [PMID: 40562808](https://pubmed.ncbi.nlm.nih.gov/40562808/). *European journal of human genetics : EJHG*. [Epidemiology / Natural History]
Talarico M (2025). [PMID: 39707840](https://pubmed.ncbi.nlm.nih.gov/39707840/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Case Report / Case Series]

Kisho

intellectual disability, autosomal dominant 29

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

GARD

Questions for Your Care Team

Questions for Your Care Team

intellectual disability, autosomal dominant 29

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

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team