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intellectual developmental disorder 62 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Sideways curvature of the spine (scoliosis) and Intellectual disability; and common findings: Strabismus, Seizure, Joint hypermobility, and Striae distensae and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Autistic behavior, Intellectual disability
Bones and joints	2	Sideways curvature of the spine (scoliosis), Joint hypermobility
Eyes	1	Strabismus
Growth and development	1	Disproportionate tall stature
Muscles	1	Cerebellar vermis atrophy

GeneReviews

Clinical Guidance

To date, about 100 individuals have been identified with a pathogenic variant in DLG4 [; Authors, personal observation]. Information about individuals with larger deletions of 17p13.1 that include DLG4 and adjacent genes is not included in this chapter. The following description of the phenotypic features associated with DLG4-related synaptopathy is based on 53 reported individuals.

Table 2.

Select Features of DLG4-Related Synaptopathy

Feature | % of Persons w/Feature1 | Comment

Intellectual disability | 100% (45/45) | Most commonly in mild-to-moderate rage

Developmental delay in 1 developmental domain | 84% (38/45) | Developmental regression is observed in 40% (17/43).

Autism spectrum disorder | 56% (24/43) | More commonly found in persons who have moderate-to-severe ID

Source: GeneReviews — "DLG4-Related Synaptopathy"

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 developmental disorder 62. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for DLG4-related synaptopathy have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with DLG4-related synaptopathy, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. DLG4-Related Synaptopathy: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	If not already performed, brain MRI can be considered in those w/abnormal neurologic exam /or seizures.; Consider 24-hour EEG to evaluate for ESES or subclinical seizure activity, particularly in persons w/developmental regression or abnormal routine EEG.
Movement disorders	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills; Mobility, ADL, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Neuropsychiatric	Neuropsychiatric eval	Formal autism eval in those w/findings suggestive of ASD; For persons age 12 months: screening for ADHD, anxiety, /or depression

Source: GeneReviews — "DLG4-Related Synaptopathy"

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 — "DLG4-Related Synaptopathy"

Clinical Trials

View trials for intellectual developmental disorder 62

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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

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. DLG4-Related Synaptopathy: Recommended Surveillance

System/Concern	Evaluation	Frequency
Neurologic	Monitor those w/seizures as clinically indicated.	At each visit Consider 24-hour EEG in those w/significant cognitive/behavioral delay, developmental regression, or abnormal routine EEG.
Development	Monitor developmental progress educational needs.	At each visit Neuropsychiatric/
Behavioral	Behavioral assessment for anxiety, ADHD, ASD, aggression, or self-injury	At each visit after infancy
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills	At each visit
Ophthalmologic involvement	Ophthalmology eval	Annually, or as clinically indicated
Respiratory	Clinical assessment for signs/symptoms of sleep disturbance	At each visit

Source: GeneReviews — "DLG4-Related Synaptopathy"

Phenotype severity distribution: 2 always present features, 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 developmental disorder 62.

207 publications have been identified in PubMed for intellectual developmental disorder 62. Kisho has analyzed 117 by research type. Research spans Epidemiology / Natural History (45%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Disease patterns and progression	53	45%
Research summaries	19	16%
Laboratory research	16	14%
Patient case studies	13	11%
Testing and diagnosis research	8	7%
Clinical study results	4	3%
Other research	2	2%
New treatment approaches	2	2%

Recent Publications

Harstad E (2026). [PMID: 39520664](https://pubmed.ncbi.nlm.nih.gov/39520664/). *J Autism Dev Disord*. [Epidemiology / Natural History]
Licari MK (2026). [PMID: 41920472](https://pubmed.ncbi.nlm.nih.gov/41920472/). *Qual Life Res*. [Epidemiology / Natural History]
Adebisi YA (2026). [PMID: 42168669](https://pubmed.ncbi.nlm.nih.gov/42168669/). *J Epidemiol Glob Health*. [Epidemiology / Natural History]
Koo HY (2026). [PMID: 41620552](https://pubmed.ncbi.nlm.nih.gov/41620552/). *Pediatr Nephrol*. [Epidemiology / Natural History]
Shaw KA (2026). [PMID: 41661606](https://pubmed.ncbi.nlm.nih.gov/41661606/). *JAMA Pediatr*. [Epidemiology / Natural History]
Chen J (2026). [PMID: 42063967](https://pubmed.ncbi.nlm.nih.gov/42063967/). *Front Neurosci*. [Epidemiology / Natural History]
Horsbøl TA (2026). [PMID: 41615686](https://pubmed.ncbi.nlm.nih.gov/41615686/). *JAMA Netw Open*. [Diagnostic / Biomarker]
Nou-Fontanet L (2026). [PMID: 41933351](https://pubmed.ncbi.nlm.nih.gov/41933351/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Salcedo-Perez-Juana M (2026). [PMID: 41405416](https://pubmed.ncbi.nlm.nih.gov/41405416/). *Child Care Health Dev*. [Epidemiology / Natural History]
Tkemladze T (2026). [PMID: 41044236](https://pubmed.ncbi.nlm.nih.gov/41044236/). *Eur J Hum Genet*. [Diagnostic / Biomarker]

Kisho

intellectual developmental disorder 62

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

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

Latest News & Developments

HER2 deficiency causes a developmental disorder with growth retardation and craniofacial malformations.

intellectual developmental disorder 62

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

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

Latest News & Developments

HER2 deficiency causes a developmental disorder with growth retardation and craniofacial malformations.