ORPHA:391372
FOXP1 Syndrome
Also known as: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
Publications
137
69.2th percentile
Trials
0
Interventional, condition-specific
Researchers
855
Distinct authors in sample
Gene link
FOXP1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic disorder, with highly variable , typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe , dysphagia, , relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.
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:0013352
- OMIM:613670
- UMLS:C4013764
Additional Mondo synonyms (4)
FOXP1 haploinsufficiency · FOXP1 syndrome · FOXP1-related neurodevelopmental disorder · intellectual disability-severe speech delay-mild dysmorphism 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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — FOXP1
- LiteraturePresent
137 matched papers (118 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?
Yes — we know a specific gene responsible (FOXP1).
GenCC classification: Definitive.
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?
137
137 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=5449) is 41.
137 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).
118 in the last 10 years · medium confidence · 69.2th percentile (publications denominator)
Phrase hits: 137 · MeSH hits: 0
Who's working on it?
855
Distinct author names in 137 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.
- 01Konopka G9 papers · 2025
Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas.
Papers in Europe PMC - 02Kolevzon A8 papers · 2026
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Papers in Europe PMC - 03Buxbaum JD7 papers · 2026
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Papers in Europe PMC - 04Fröhlich H7 papers · 2026
Department of Human Molecular Genetics, Institute of Human Genetics, Heidelberg University Hospital, D-69120 Heidelberg, Germany.
Papers in Europe PMC - 05De Rubeis S6 papers · 2026
Department of Psychiatry, New York, NY, USA; Seaver Autism Center for Research and Treatment, New York, NY, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 06Harper M6 papers · 2025
Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA;
Papers in Europe PMC - 07Siper PM6 papers · 2026
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Papers in Europe PMC - 08Wang J6 papers · 2026
State Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Papers in Europe PMC - 09Koene S5 papers · 2026
Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands s.koene@lumc.nl.
Papers in Europe PMC - 10Levy T5 papers · 2026
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
- NCT03718923·RECRUITING·FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Conditions: FOXP1 · Mental Retardation With Language Impairment and With or Without Autistic Features · Autism Spectrum Disorder·Matched via name phrase
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.
"FOXP1 Syndrome" OR "FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome" OR "FOXP1 haploinsufficiency" OR "FOXP1-related neurodevelopmental disorder" OR "intellectual disability-severe speech delay-mild dysmorphism syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"FOXP1 Syndrome" OR "FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome" OR "FOXP1 haploinsufficiency" OR "FOXP1-related neurodevelopmental disorder" OR "intellectual disability-severe speech delay-mild dysmorphism syndrome" OR "FOXP1"
Recall-expansion terms: FOXP1
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T15:03:36.518Z