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chromosome 15q13.3 microdeletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 15q13.3 microdeletion syndrome

MONDO:0012774

Also known as:15q13.3 microdeletion syndromeDel(15)(q13.3)monosomy 15q13.3

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Overview

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

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.

Features include common findings: Moderate intellectual disability, Abnormality of the palpebral fissures, Atypical behavior, and Abnormal facial shape and others; and sometimes findings: Mild intellectual disability, Strabismus, Brachydactyly, and Seizure and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Mild intellectual disability, Moderate intellectual disability, Seizure

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

No consensus clinical diagnostic criteria for the 15q13.3 recurrent deletion have been published. Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete.

Suggestive Findings

The 15q13.3 recurrent deletion should be considered in individuals with the following clinical findings and family history.

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 chromosome 15q13.3 microdeletion syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for the 15q13.3 recurrent deletion have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with the 15q13.3 recurrent deletion, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with the 15q13.3 Recurrent Deletion

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 in are recommended. Table 5. Recommended Surveillance for Individuals with the 15q13.3 Recurrent Deletion

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for chromosome 15q13.3 microdeletion syndrome. Research spans Review / Meta-Analysis (29%), Basic Science / Preclinical (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Rees KA (2025). [PMID: 40300236](https://pubmed.ncbi.nlm.nih.gov/40300236/). *Cytokine*. [Basic Science / Preclinical]
Colijn MA (2025). [PMID: 40145886](https://pubmed.ncbi.nlm.nih.gov/40145886/). *Psychiatric genetics*. [Review / Meta-Analysis]
Chen CP (2025). [PMID: 40049827](https://pubmed.ncbi.nlm.nih.gov/40049827/). *Taiwanese journal of obstetrics & gynecology*. [Case Report / Case Series]
Luo X (2025). [PMID: 41123664](https://pubmed.ncbi.nlm.nih.gov/41123664/). *Archives of gynecology and obstetrics*. [Diagnostic / Biomarker]
Ullah A (2025). [PMID: 40880366](https://pubmed.ncbi.nlm.nih.gov/40880366/). *PloS one*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 7:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612001

Orphanet

European rare disease database

Orphanet:199318

GARD

Genetic and Rare Diseases Info Center

GARD:10296

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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GeneReviews

Clinical Guidance

More than 200 individuals with an approximately 2.0-Mb heterozygous recurrent deletion at 15q13.3 have been reported . The following description of the phenotypic features associated with this condition is based on these reports. Note: To date, no clinically significant differences have been reported between individuals with deletions BP3-BP5 or BP3-BP4 compared to those with BP4-BP5. However, this chapter focuses specifically on those with the BP4-BP5 deletion , as this recurrent deletion accounts for about 94% of deletions in this recurrent deletion region . Table 2. 15q13.3 Recurrent Deletion: Frequency of Select Features

Feature	% of Persons w/Feature1	Comment
Developmental delay/ intellectual disability	~59%	Accounting for ascertainment2
Behavioral findings	~35%3	—
Seizures/epilepsy	~30%	—
Minor dysmorphic facial features	~16%	No specific areas of the face are consistently dysmorphic no recognizable facial features have been reported .
Hypotonia	~14%	—
Schizophrenia	~11%	—
Autism spectrum disorder	~10%	—
Mood disorders	~10%	—
ADHD	~7%	AHDH = attention-deficit/hyperactivity disorder Derived from 125 known affected individuals specifically with BP4-BP5 deletions . Percentages are also adjusted to correct for ascertainment bias. Data from affected individuals reported by are included in the report.

Source: GeneReviews — "15q13.3 Recurrent Deletion"

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl adaptive, cognitive, speech/language eval; Eval for early intervention/ special education Psychiatric/
Behavioral	Neuropsychiatric eval	For persons age 12 mos: screening for behavior concerns incl ADHD /or findings suggestive of ASD, schizophrenia, mood disorders
Neurologic	Neurologic eval	Consider EEG brain MRI if seizures are a concern.
Cardiovascular	Consider echocardiogram.	If there are concerning clinical signs /or symptoms
Eyes	Ophthalmologic eval	To assess vision strabismus
Hearing	Audiologic eval	Assess for hearing loss in those w/recurrent ear infections.
Genitourinary	Consider baseline renal ultrasound.1	To assess for renal anomalies hydronephrosis Genetic
counseling	By genetics professionals2	To inform affected persons their families re nature, MOI, implications of 15q13.3 recurrent deletion to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with 15q13.3 Recurrent Deletion Manifestation/Concern	Treatment	Considerations/Other Developmental delay/
Intellectual disability	See .	—
Psychiatric disorders	Standard treatment per psychologist/psychiatrist	—
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Use of valproate has been successful in some affected persons.1; Oxcarbazepine led to clinical worsening in 1 affected person.1; Ketogenic diet cannabidiol have been tried in 1 person each, w/no efficacy.1; Education of parents/caregivers2
Congenital heart defects	Standard treatment per cardiologist	—
Eyes	Standard treatment per ophthalmologist	Refractive errors, strabismus
Hearing	Grommets in recurrent glue ear middle ear infections	—
Renal anomalies/Hydronephrosis3	Standard treatment per urologist /or nephrologist	Family/Community

Kisho

chromosome 15q13.3 microdeletion syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Clinical Trials

chromosome 15q13.3 microdeletion syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Clinical Trials