ORPHA:468620
Intellectual disability-epilepsy-extrapyramidal syndrome
Publications
2
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
12
Distinct authors in sample
Gene link
DEAF1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by , delayed motor development, dyskinesia of the limbs, with impaired speech development, , autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.
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:0014952
- OMIM:617171
- UMLS:C4310683
Additional Mondo synonyms (1)
neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures
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 — DEAF1
- LiteraturePresent
2 matched papers (2 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 (DEAF1).
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?
2
2 papers have ever been indexed 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.
2 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).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
12
Distinct author names in 2 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.
- 01Barbitoff Y1 paper · 2023
Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, 199034 St. Petersburg, Russia; (T.E.L.); (Y.A.N.)
Papers in Europe PMC - 02Bogaychuk P1 paper · 2023
Bioinformatics Institute, Kantemirovskaya St. 2A, 197342 St. Petersburg, Russia; (N.S.P.); (P.M.B.)
Papers in Europe PMC - 03Borlot F1 paper · 2025
Department of Clinical Neurosciences, University of Calgary, Calgary, AB, Canada.
Papers in Europe PMC - 04Frosk P1 paper · 2025
Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Papers in Europe PMC - 05Glotov A1 paper · 2023
Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, 199034 St. Petersburg, Russia; (T.E.L.); (Y.A.N.)
Papers in Europe PMC - 06Krutish A1 paper · 2025
Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Papers in Europe PMC - 07Kukurudz-Gorowski R1 paper · 2025
Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Papers in Europe PMC - 08Lazareva T1 paper · 2023
Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, 199034 St. Petersburg, Russia; (T.E.L.); (Y.A.N.)
Papers in Europe PMC - 09Mhanni AA1 paper · 2025
Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Papers in Europe PMC - 10Nasykhova Y1 paper · 2023
Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, 199034 St. Petersburg, Russia; (T.E.L.); (Y.A.N.)
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. 1 observational study 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.
high 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
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.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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.
"Intellectual disability-epilepsy-extrapyramidal syndrome" OR "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intellectual disability-epilepsy-extrapyramidal syndrome" OR "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" OR "DEAF1"
Recall-expansion terms: DEAF1
Study-type breakdown: 0 interventional · 1 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T17:03:35.424Z