ORPHA:561854
FOXG1 syndrome
Also known as: FOXG1-related epileptic-dyskinetic encephalopathy
Publications
5,298
Trials
2
Interventional, condition-specific
Researchers
1,500
Distinct authors in sample
Gene link
FOXG1
Definitive
Readiness
4/6
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.”
4/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — FOXG1
- LiteraturePresent
5,298 matched papers (3,695 in last 10 years) Source
- Phenotype characterisedPresent
97 HPO annotations (e.g. Progressive microcephaly; Strabismus; Motor stereotypy) 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 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)
97
Associated phenotypes · MONDO:0035383
- Progressive microcephaly
- Strabismus
- Motor stereotypy
- Motor delay
- Visual impairment
Showing 5 of 97 — 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?
5,298
5,298 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
5,298 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).
3,695 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 11 September 2026 · last trial check 28 July 2026
2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).
low confidence · 84.5th 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.
- NCT07293546·ENROLLING BY INVITATION·Phase 1/2 Study of FRF-001, an AAV-9 Gene Therapy, in Patients With FOXG1 Syndrome (FS)
Not reviewed·Conditions: FOXG1 Syndrome·Matched via name phrase
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Not reviewed·Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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.
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 FOXG1 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.
("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" OR "FOXG1-related")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"
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 · 1 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
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