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ORPHA:199318

15q13.3 microdeletion syndrome

high confidenceDisorder

Also known as: Del(15)(q13.3) · Monosomy 15q13.3

Publications

170

60.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,397

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly characterized by a high risk for the occurrence of a wide range of neurodevelopmental anomalies including global (DD), (ID), and behavioral issues of varying severity. 15q13.3 microdeletion does not lead to a clinically specific .

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

chromosome 15q13.3 microdeletion syndrome · monosomy 15q13.3

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    170 matched papers (123 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Intellectual disability; Global developmental delay; Microcephaly) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

37

Associated phenotypes · MONDO:0012774

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Macrocephaly
  • Epicanthus

Showing 5 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

170

170 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

170 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

123 in the last 10 years · high confidence · 60.1th percentile (publications denominator)

Phrase hits: 170 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,397

Distinct author names in 170 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Schaaf CP14 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Neurological Research Institute, Houston, TX 77030, USA. Electronic address: schaaf@bcm.edu.

    Papers in Europe PMC
  2. 02
    Stankiewicz P8 papers · 2020

    Baylor Genetics Laboratories, Houston, TX, USA.

    Papers in Europe PMC
  3. 03
    Eichler EE7 papers · 2016

    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address: eee@gs.washington.edu.

    Papers in Europe PMC
  4. 04
    Beaudet AL6 papers · 2019

    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

    Papers in Europe PMC
  5. 05
    Gillentine MA6 papers · 2018

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Neurological Research Institute, Houston, TX 77030, USA.

    Papers in Europe PMC
  6. 06
    Nielsen J5 papers · 2018

    Synaptic Transmission, In Vitro, Neuroscience Research DK, H. Lundbeck A/S, Valby, Denmark.

    Papers in Europe PMC
  7. 07
    Wang L5 papers · 2025

    Peking University Sixth Hospital, Beijing, 100191, China. lifangwang@bjmu.edu.cn.

    Papers in Europe PMC
  8. 08
    Wang Y5 papers · 2026

    Lineberger Comprehensive Cancer Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.

    Papers in Europe PMC
  9. 09
    Cheung SW4 papers · 2019

    Baylor Genetics Laboratories, Houston, TX, USA.

    Papers in Europe PMC
  10. 10
    Didriksen M4 papers · 2019

    H. Lundbeck A/S, Synaptic Transmission, Neuroscience Research DK, Ottiliavej 9, Valby, 2500, Denmark.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for 15q13.3 microdeletion syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"15q13.3 microdeletion syndrome" OR "Del(15)(q13.3)" OR "Monosomy 15q13.3" OR "chromosome 15q13.3 microdeletion syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Chromosome 15q13.3 Microdeletion Syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"15q13.3 microdeletion syndrome" OR "Del(15)(q13.3)" OR "Monosomy 15q13.3" OR "chromosome 15q13.3 microdeletion syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T09:13:07.478Z