ORPHA:94063
12q14 microdeletion syndrome
Also known as: Del(12)(q14) · Deletion 12q14 · Monosomy 12q14 · Osteopoikilosis-short stature-intellectual disability syndrome
Publications
42
36.5th percentile
Trials
0
Interventional, condition-specific
Researchers
437
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
12q14 microdeletion syndrome is characterised by mild intellectual deficit, , short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019784
- UMLS:C4305140
Additional Mondo synonyms (3)
deletion 12q14 · monosomy 12q14 · osteopoikilosis-short stature-intellectual disability syndrome
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.”
2/6 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
42 matched papers (21 in last 10 years) Source
- Phenotype characterisedPresent
37 HPO annotations (e.g. Prominent nasal bridge; Abnormality of the spleen; Scoliosis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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:0019784
- Prominent nasal bridge
- Abnormality of the spleen
- Scoliosis
- Horseshoe kidney
- Hypertelorism
Showing 5 of 37 — 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?
42
42 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.
42 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).
21 in the last 10 years · high confidence · 36.5th percentile (publications denominator)
Phrase hits: 42 · MeSH hits: 0
Who's working on it?
437
Distinct author names in 42 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.
- 01
- 02Lynch S5 papers · 2010
National Centre for Medical Genetics, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland
Papers in Europe PMC - 03Barton D4 papers · 2010
National Centre for Medical Genetics, Our Lady's Children's Hospital Crumlin, Dublin 12
Papers in Europe PMC - 04Green A4 papers · 2010
National Centre for Medical Genetics, Our Lady's Children's Hospital Crumlin, Dublin 12
Papers in Europe PMC - 05Regan R4 papers · 2011
School of Medicine and Medical Science, University College Dublin Ireland
Papers in Europe PMC - 06Betts D3 papers · 2010
National Centre for Medical Genetics, Our Lady's Children's Hospital Crumlin, Dublin 12
Papers in Europe PMC - 07Sharkey F3 papers · 2011
Medical Genetics Section, MRC Human Genetics Unit, Western General Hospital Edinburgh, UK
Papers in Europe PMC - 08Carella M2 papers · 2017
Unità di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
Papers in Europe PMC - 09Casey J2 papers · 2010
Health Science, School of Medicine and Medical Science, University College Dublin Dublin, Ireland
Papers in Europe PMC - 10
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 12q14 microdeletion syndrome — check Associations / patient organisations on that page.
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.
"12q14 microdeletion syndrome" OR "Del(12)(q14)" OR "Deletion 12q14" OR "Monosomy 12q14" OR "Osteopoikilosis-short stature-intellectual disability syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"12q14 microdeletion syndrome" OR "Del(12)(q14)" OR "Deletion 12q14" OR "Monosomy 12q14" OR "Osteopoikilosis-short stature-intellectual disability syndrome"
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 2026-07-27T04:36:27.806Z