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ORPHA:3306

Inverted duplicated chromosome 15 syndrome

high confidenceDisorder

Also known as: Duplication/inversion 15q11 · Inv dup (15) syndrome · Isodicentric chromosome 15 syndrome · Non-distal tetrasomy 15q · Non-telomeric tetrasomy 15q · idic (15) syndrome

Publications

418

58.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,267

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central , global and intellectual deficit, autistic behavior, and .

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

Duplication/inversion type 15q11 · Inv dup(15) · Invdup(15) · Isodicentric 15 chromosome · duplication/inversion 15q11 · idic(15) · non-distal tetrasomy 15q · non-telomeric tetrasomy 15q

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    418 matched papers (109 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Autistic behavior; Generalized hypotonia; Joint hypermobility) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

42

Associated phenotypes · MONDO:0018027

  • Autistic behavior
  • Generalized hypotonia
  • Joint hypermobility
  • Drooling
  • Motor stereotypy

Showing 5 of 42 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

418

418 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.

418 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).

109 in the last 10 years · high confidence · 58.3th percentile (publications denominator)

Phrase hits: 418 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,267

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Liehr T12 papers · 2025

    Institute of Human Genetics and Anthropology, Jena, Germany. i8lith@mti.uni-jena.de

    Papers in Europe PMC
  2. 02
    Reiter LT7 papers · 2025

    1Department of Neurology, The University of Tennessee Health Science Center, 855 Monroe Ave., Link 415, Memphis, TN 38163 USA.

    Papers in Europe PMC
  3. 03
    Battaglia A6 papers · 2021

    Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.

    Papers in Europe PMC
  4. 04
    Schanen NC6 papers · 2015

    Department of Psychiatry, Nemours Biomedical Research, duPont Hospital for Children, Wilmington, DE, USA.

    Papers in Europe PMC
  5. 05
    Cook EH5 papers · 2020

    Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA.

    Papers in Europe PMC
  6. 06
    Crolla JA5 papers · 2003
    Papers in Europe PMC
  7. 07
    Wegiel J5 papers · 2015

    Department of Developmental Neurobiology, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.

    Papers in Europe PMC
  8. 08
    Chamberlain SJ4 papers · 2023

    Department of Genetics & Developmental Biology & Stem Cell Institute, University of Connecticut, Farmington, CT 06030, USA.

    Papers in Europe PMC
  9. 09
    Striano P4 papers · 2024

    Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "G. Gaslini", Genoa, Italy. strianop@gmail.com.

    Papers in Europe PMC
  10. 10
    Beghi E3 papers · 2020

    Laboratory of Neurological Disorders, Department of Neuroscience, IRCCS-Istituto di Ricerche Farmacologiche "Mario Negri", Milan, Italy. Electronic address: ettore.beghi@marionegri.it.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-29

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 Inverted duplicated chromosome 15 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.

"Inverted duplicated chromosome 15 syndrome" OR "Duplication/inversion 15q11" OR "Inv dup (15) syndrome" OR "Isodicentric chromosome 15 syndrome" OR "Non-distal tetrasomy 15q" OR "Non-telomeric tetrasomy 15q" OR "idic (15) syndrome" OR "Duplication/inversion type 15q11" OR "Inv dup(15)" OR "Invdup(15)" OR "Isodicentric 15 chromosome" OR "idic(15)"

Run this search on Europe PMC

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

"Inverted duplicated chromosome 15 syndrome" OR "Duplication/inversion 15q11" OR "Inv dup (15) syndrome" OR "Isodicentric chromosome 15 syndrome" OR "Non-distal tetrasomy 15q" OR "Non-telomeric tetrasomy 15q" OR "idic (15) syndrome" OR "Duplication/inversion type 15q11" OR "Inv dup(15)" OR "Invdup(15)" OR "Isodicentric 15 chromosome" OR "idic(15)"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-26T22:48:41.170Z