ORPHA:261222
Distal 16p11.2 microdeletion syndrome
Also known as: Distal del(16)(p11.2) · Distal monosomy 16p11.2
Publications
3
7th percentile
Trials
0
Interventional, condition-specific
Researchers
40
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable typically characterized by , mild and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, , vertebral anomalies and obesity are frequently associated.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013267
- OMIM:613444
- UMLS:C3150701
Additional Mondo synonyms (5)
body mass index QTL16 · chromosome 16p11.2 deletion syndrome, type 220kb · distal 16p11.2 microdeletion syndrome · distal del(16)(p11.2) · distal monosomy 16p11.2
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3 matched papers (1 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
3
3 papers have ever been indexed 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=5449) is 41.
3 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
40
Distinct author names in 3 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.
- 01Aerts E1 paper · 2015
Centre of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 02Beckers S1 paper · 2015
Centre of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 03Blumenthal I1 paper · 2014
Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Papers in Europe PMC - 04Borg I1 paper · 2020
Department of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, Malta.
Papers in Europe PMC - 05Cuturilo G1 paper · 2020
Faculty of Medicine, University of Belgrade, Dr Subotica 8, 11000 Belgrade, Serbia.
Papers in Europe PMC - 06de Stefano MC1 paper · 2020
Italian National Transplant Center, Italian National Institute of Health, 00161 Rome, Italy.
Papers in Europe PMC - 07Devlin B1 paper · 2014
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Papers in Europe PMC - 08Erdin S1 paper · 2014
Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Papers in Europe PMC - 09Ernst C1 paper · 2014
Department of Psychiatry, McGill University, Douglas Hospital Research Institute, Montreal, QC H4H 1R3, Canada.
Papers in Europe PMC - 10Gallagher L1 paper · 2020
Trinity Institute of Neurosciences, Trinity College Dublin, University of Dublin, Dublin 152-160, Ireland.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Distal 16p11.2 microdeletion syndrome" OR "Distal del(16)(p11.2)" OR "Distal monosomy 16p11.2" OR "body mass index QTL16" OR "chromosome 16p11.2 deletion syndrome, type 220kb"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Distal 16p11.2 microdeletion syndrome" OR "Distal del(16)(p11.2)" OR "Distal monosomy 16p11.2" OR "body mass index QTL16" OR "chromosome 16p11.2 deletion syndrome, type 220kb"
Study-type breakdown: 0 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 2026-07-27T11:13:31.494Z