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ORPHA:85294

X-linked epilepsy-learning disabilities-behavior disorders syndrome

low confidenceDisorder

Query health: suspect — Source fetch failed for trials.

Publications

0

Trials

—

Interventional, condition-specific

Researchers

0

Distinct authors in sample

Gene link

SYN1

Strong

Readiness

1/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Strong — SYN1

  2. LiteratureNot found

    No matched Europe PMC hits under our query rules Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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)

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?

0

We found no papers under this exact name — work may still exist under another label.

0 in the last 10 years · low confidence

Phrase hits: 0 · MeSH hits: 0

Open Europe PMC search

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 27 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.

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 2026-07-26

This 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"

Run this search on Europe PMC

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):

(empty)

Recall-expansion terms: SYN1, epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: none

Parent literature probe: X-linked disease (MONDO:0000425) — 2209 hits

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%20OR%20%22SYN1%22%20OR%20%22epilepsy%2C%20X-linked%2C%20with%20or%20without%20impaired%20intellectual%20development%20and%20dysmorphic%20features%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
  • Zero publications but GenCC Strong — literature likely indexed under another name; excluded from neglect count

Ingested 2026-07-27T02:53:56.344Z · excluded from neglect metrics