ORPHA:561854
FOXG1 syndrome
Also known as: FOXG1-related epileptic-dyskinetic encephalopathy
Publications
227
Trials
2
Interventional, condition-specific
Researchers
1,500
Distinct authors in sample
Gene link
FOXG1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by early onset of microcephaly, severe global and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, , and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0035383
- MONDO:0100040
- OMIM:613454
- UMLS:C3150705
- NCIT:C176903
Additional Mondo synonyms (5)
FOXG1 disorder · FOXG1 inherited genetic disease · FOXG1 syndrome due to intragenic alteration · Rett syndrome, congenital variant · inherited genetic disease caused by mutation in FOXG1
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.
- Gene identifiedPresent
Definitive — FOXG1
- LiteraturePresent
227 matched papers (194 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 trialPresent
2 matched on ClinicalTrials.gov (2 recruiting in sample)
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 (FOXG1).
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?
227
227 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.
227 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).
194 in the last 10 years · low confidence
Phrase hits: 227 · MeSH hits: 0
Who's working on it?
1,500
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.
- 01Marsh ED13 papers · 2026
Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 02Neul JL12 papers · 2026
Vanderbilt University Medical Center, Nashville, TN, USA.
Papers in Europe PMC - 03Vogel T10 papers · 2025
Department of Molecular Embryology, Institute of Anatomy and Cell Biology, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 04Benke TA8 papers · 2026
University of Colorado School of Medicine, Children's Hospital Colorado-Aurora, Denver, Colorado, USA.
Papers in Europe PMC - 05Jeon S8 papers · 2025
Department of Biological Sciences, University at Buffalo, Buffalo, NY, United States.
Papers in Europe PMC - 06Lee JW8 papers · 2026
Papé Family Pediatric Research Institute, Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA.
Papers in Europe PMC - 07Percy AK8 papers · 2026
University of Alabama at Birmingham, Lowder Bldg 416, Birmingham, AL, 35233, USA. apercy@uabmc.edu.
Papers in Europe PMC - 08Zhao C8 papers · 2026
Key Laboratory of Developmental Genes and Human Diseases, Ministry of Education, School of Medicine, Southeast University, Nanjing, 210009, China. zhaocj@seu.edu.cn.
Papers in Europe PMC - 09Brimble E7 papers · 2025
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
Papers in Europe PMC - 10Peters SU7 papers · 2026
Vanderbilt Kennedy Center, Department of Pediatrics, Vanderbilt University Medical Center, Vanderbilt University, Nashville, TN, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
- NCT07293546·ENROLLING BY INVITATION·Phase 1/2 Study of FRF-001, an AAV-9 Gene Therapy, in Patients With FOXG1 Syndrome (FS)
Conditions: FOXG1 Syndrome·Matched via name phrase
Observational and natural-history studies
2 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.
None of the matched observational studies is currently listed as recruiting.
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.
"FOXG1 syndrome" OR "FOXG1-related epileptic-dyskinetic encephalopathy" OR "FOXG1 disorder" OR "FOXG1 inherited genetic disease" OR "FOXG1 syndrome due to intragenic alteration" OR "Rett syndrome, congenital variant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"FOXG1 syndrome" OR "FOXG1-related epileptic-dyskinetic encephalopathy" OR "FOXG1 disorder" OR "FOXG1 inherited genetic disease" OR "FOXG1 syndrome due to intragenic alteration" OR "Rett syndrome, congenital variant" OR "FOXG1"
Recall-expansion terms: FOXG1
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: 2 interventional · 2 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
Synonyms dropped by stoplist: inherited genetic disease caused by mutation in FOXG1
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- "FOXG1 syndrome due to intragenic alteration" also appears on ORPHA:598164
Ingested 2026-07-27T18:20:02.220Z