ORPHA:85294
X-linked epilepsy-learning disabilities-behavior disorders syndrome
Query health: suspect — Source fetch failed for trials.
Publications
4,243
Trials
—
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
SYN1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
X-linked -learning disabilities-behavior disorders syndrome is characterized by , learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010339
- MeSH:C564505
- OMIM:300491
- UMLS:C5774177
Additional Mondo synonyms (2)
epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant · epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Strong — SYN1
- LiteraturePresent
4,243 matched papers (3,186 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Autistic behavior; Specific learning disability; Macrocephaly) 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 checked
Trial fetch failed or incomplete
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 (SYN1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
10
Associated phenotypes · MONDO:0010339
- Autistic behavior
- Specific learning disability
- Macrocephaly
- Seizure
- Aggressive behavior
Showing 5 of 10 — 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?
4,243
4,243 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
4,243 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).
3,186 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 11 September 2026 · last trial check 31 July 2026
low confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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 60 · after dedupe 57 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 57 · 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).
Uncertain / not reviewed (57)
- ctis·2026-525162-21-00·Authorised·A Phase 2a, multi centric, open label clinical study to explore the safety and tolerability, the pharmacokinetics and pharmacodynamics profile and first signs of efficacy of PTI5803 administered as adjunctive therapy with a 3-dose escalation regimen in patients >= 14 years of age with drug-resistant seizures associated to focal cortical dysplasia, followed by an optional open-label extension study.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524019-35-00·Authorised, ongoing·Three-part PK and PD study of AXN-027
skipped — LLM skipped (--skip-llm)
- ctis·2026-525478-21-00·Authorised·A randomized, multiple ascending doses, clinical trial to evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics of CV-01 after double-blind, placebo-controlled multiple oral administrations for 2 weeks in healthy volunteers, and multiple oral administrations open-label for 2 weeks in a cohort of participants with drug resistant epilepsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524511-36-00·Authorised·Impact of epilepsy on the brainstem adenosine pathway and its relation with arousal and respiratory reactivity
BRAVE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524134-26-00·Authorised, ongoing·Effect of NBI-921355 on corticospinal excitability in healthy participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-522552-20-00·Authorised, recruiting·Multicenter, Randomized, Double-blind, Placebo-controlled Trial of Clemizole HCl as Adjunctive Therapy in Patients with Lennox-Gastaut Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524038-24-00·Authorised, recruiting·A Double-blind, Randomized Clinical Trial Evaluating the Efficacy and Safety of Vormatrigine in Adults with Focal Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2025-523275-27-00·Authorised, recruiting·HELIOS: An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP).
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524199-40-00·Authorised, ongoing·A PET-MRI study of serotoninergic brainstem pathway in patients with Dravet Syndrome - DRAPETONINE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524310-28-00·Authorised, ongoing·A Study Evaluating the Safety and Tolerability of a Novel Formulation of QRL-101 in Healthy Participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-520587-18-00·Authorised, ongoing·RENAISSANCE 2:
A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Parallel-Group Study to Evaluate the Efficacy, Safety, and Tolerability of SPN-817 in Adults with Focal Onset Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2024-519133-29-00·Authorised·Efficacy of probenecid on cluster seizures during dosage reduction of Anti Seizure Medication (ASM) in presurgical focal epilepsy video-EEG monitoring
skipped — LLM skipped (--skip-llm)
- ctis·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-521640-38-00·Authorised, ongoing·Open Label Extension Clinical Trial of Vormatrigine in Adult Patients with Epilepsy.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520407-27-00·Expired·APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants with
Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520541-72-00·Authorised, ongoing·NBI-1065845-MDD3027: A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Maintenance of Effect of NBI 1065845 as an Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519421-37-00·Authorised, ongoing·NBI-1065845-MDD3026: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519420-25-00·Authorised, ongoing·NBI-1065845-MDD3025: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519423-24-00·Authorised, recruiting·NBI-1065845-MDD3028: A Long-Term, Open-Label Study to Assess the Safety and Tolerability of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519555-28-00·Authorised, recruiting·EMPEROR: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel Group, Phase 3 Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen (STK-001) in Patients with Dravet Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-519418-29-00·Authorised, ongoing·NBI-1065845-MDD3024: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514937-39-00·Authorised, ongoing·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Investigate the Efficacy, Safety, and Tolerability of LP352 in the Treatment of Seizures in Children and Adults with Dravet Syndrome
skipped — LLM skipped (--skip-llm)
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 X-linked epilepsy-learning disabilities-behavior disorders 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.
("X-linked epilepsy-learning disabilities-behavior disorders syndrome" OR "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" OR "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant") OR (MESH:"Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders") OR ("SYN1" OR "SYN1 syndrome" OR "SYN1-related")MeSH descriptor terms unioned into the query: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked epilepsy-learning disabilities-behavior disorders syndrome" OR "Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders"
Query health: suspect — strategies attempted: phrase, mesh; with hits: none
Parent literature probe: X-linked disease (MONDO:0000425) — 2209 hits
Run this search on ClinicalTrials.gov
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22X-linked%20epilepsy-learning%20disabilities-behavior%20disorders%20syndrome%22%20OR%20%22epilepsy%2C%20X-linked%2C%20with%20variable%20learning%20disabilities%20and%20behavior%20disorders%2C%20X-linked%20recessive%2C%20X-linked%20dominant%22%20OR%20%22epilepsy%2C%20X-linked%2C%20with%20variable%20learning%20disabilities%20and%20behaviour%20disorders%2C%20X-linked%20recessive%2C%20X-linked%20dominant%22%20OR%20%22Epilepsy%2C%20X-Linked%2C%20with%20Variable%20Learning%20Disabilities%20and%20Behavior%20Disorders%22&format=json&pageSize=100&countTotal=true
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 (4243) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T02:53:56.344Z