ORPHA:647799
MYT1L-related developmental delay-intellectual disability-obesity syndrome
Also known as: MYT1L-associated neurodevelopmental disorder
Publications
6
21.7th percentile
Trials
0
Interventional, condition-specific
Researchers
88
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurodevelopmental syndrome characterized by global , of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions), non-specific magnetic resonance imaging (brain MRI) abnormalities, ophthalmologic abnormalities, , sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0957477
- UMLS:C5816753
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
6 matched papers (6 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
6
6 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.
6 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).
6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)
Phrase hits: 6 · MeSH hits: 0
Who's working on it?
88
Distinct author names in 6 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.
- 01Afenjar A1 paper · 2022
Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, APHP. Sorbonne Université, Hôpital Trousseau, 75012, Paris, France.
Papers in Europe PMC - 02Alaix AS1 paper · 2022
Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Papers in Europe PMC - 03Amiel J1 paper · 2022
Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Papers in Europe PMC - 04Barcia G1 paper · 2022
Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Papers in Europe PMC - 05Bhat K1 paper · 2026
Dept. of Psychiatry, B. J. Government Medical College, Pune, Maharashtra, India.
Papers in Europe PMC - 06Bilan F1 paper · 2022
Service de Génétique, Centre Hospitalier Universitaire de Poitiers, BP577, 86021, Poitiers, France.
Papers in Europe PMC - 07Boland A1 paper · 2022
Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, 91057, Evry, France.
Papers in Europe PMC - 08Bruel AL1 paper · 2022
UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.
Papers in Europe PMC - 09Callewaert B1 paper · 2022
Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
Papers in Europe PMC - 10Caumes R1 paper · 2022
Université de Lille, CHU de Lille, Clinique de Génétique « Guy Fontaine », EA7364 RADEMEF-59000, Lille, France.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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.
"MYT1L-related developmental delay-intellectual disability-obesity syndrome" OR "MYT1L-associated neurodevelopmental disorder"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"MYT1L-related developmental delay-intellectual disability-obesity syndrome" OR "MYT1L-associated neurodevelopmental disorder"
Study-type breakdown: 0 interventional · 0 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
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 2026-07-27T19:48:38.864Z