ORPHA:522077
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Also known as: BAGOS · Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
392
78.5th percentile
Trials
0
Interventional, condition-specific
Researchers
802
Distinct authors in sample
Gene link
SYT1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by , ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global and , behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic .
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:0033864
- OMIM:618218
- UMLS:C4748715
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
Strong — SYT1
- LiteraturePresent
392 matched papers (197 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 (SYT1).
GenCC classification: Strong.
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?
392
392 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.
392 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).
197 in the last 10 years · medium confidence · 78.5th percentile (publications denominator)
Phrase hits: 392 · MeSH hits: 0
Who's working on it?
802
Distinct author names in 200 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.
- 01Bagos PG123 papers · 2026
Department of Cell Biology and Biophysics, Faculty of Biology, University of Athens, Panepistimiopolis, Athens, 15701, Greece. pbagos@biol.uoa.gr
Papers in Europe PMC - 02Kontou PI40 papers · 2026
University of Thessaly, Department of Computer Science and Biomedical Informatics, Papasiopoulou 2-4, Lamia, 35100, Greece.
Papers in Europe PMC - 03Hamodrakas SJ22 papers · 2021
Faculty of Biology, Department of Cell Biology and Biophysics, University of Athens, Athens, Greece.
Papers in Europe PMC - 04Nikolopoulos GK22 papers · 2022
Hellenic Center for Disease Control and Prevention, Athens, Greece. g.nikolopoulos@keel.gr
Papers in Europe PMC - 05Bagos P20 papers · 2026
Department of Computer Science and Biomedical Informatics, University of Thessaly, Lamia, Greece.
Papers in Europe PMC - 06Braliou GG20 papers · 2026
Department of Computer Science and Biomedical Informatics, University of Thessaly, Lamia 35100, Greece.
Papers in Europe PMC - 07Dimou NL17 papers · 2020
Department of Cell Biology and Biophysics, Faculty of Biology, University of Athens, Panepistimiopolis, Athens, Greece.
Papers in Europe PMC - 08Tsirigos KD17 papers · 2026
Department of Cell Biology and Biophysics, Faculty of Biology, University of Athens, Athens 15701, Greece.
Papers in Europe PMC - 09Bonovas S11 papers · 2021
Department of Pharmacology, School of Medicine, University of Athens, Athens, Greece; Hellenic Centre for Disease Control and Prevention, Athens, Greece; Department of Computer Science and Biomedical Informatics, University of Central Greece, Lamia, Greece.
Papers in Europe PMC - 10Pavlopoulos GA11 papers · 2025
Lawrence Berkeley Labs, DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, CA 94598, 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. 2 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
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.
Recruiting or not-yet-recruiting
- NCT06399952·RECRUITING·Baker Gordon Syndrome Natural History Study
Conditions: Rare Diseases · Autism or Autistic Traits · Development Delay · SYT-SSX Fusion Protein Expression·Matched via name phrase
- NCT07329257·RECRUITING·Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Conditions: Baker Gordon Syndrome · Rare Neurodevelopmental Conditions · Rare Neurogenetic Conditions · Syt-1 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.
"Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" OR "BAGOS" OR "Baker-Gordon syndrome" OR "SYT1-related neurodevelopmental disorder"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" OR "BAGOS" OR "Baker-Gordon syndrome" OR "SYT1-related neurodevelopmental disorder" OR "SYT1"
Recall-expansion terms: SYT1
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
- Publication count (392) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T18:03:43.772Z