ORPHA:476126
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Publications
28
41.2th percentile
Trials
12
Interventional, condition-specific
Researchers
243
Distinct authors in sample
Gene link
TRIO
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome with characterized by mild global , or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.
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:0014892
- OMIM:617061
- UMLS:C4310740
Additional Mondo synonyms (5)
MEBAS · MRD44 · autosomal dominant intellectual disability 44 · intellectual developmental disorder, autosomal dominant 44, with microcephaly · mercer-Ba syndrome
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — TRIO
- LiteraturePresent
28 matched papers (26 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 trialPresent
12 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (TRIO).
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?
28
28 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.
28 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).
26 in the last 10 years · high confidence · 41.2th percentile (publications denominator)
Phrase hits: 28 · MeSH hits: 0
Who's working on it?
243
Distinct author names in 28 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Armistead SJ4 papers · 2023
Department of Chemistry, The University of Sheffield, Dainton Building, Brook Hill, Sheffield, S3 7HF UK.
Papers in Europe PMC - 02Smith CC4 papers · 2023
Department of Civil and Structural Engineering, The University of Sheffield, Sir Frederick Mappin Building, Sheffield, S1 3JD UK.
Papers in Europe PMC - 03Staniland SS4 papers · 2023
Department of Chemistry, The University of Sheffield, Dainton Building, Brook Hill, Sheffield, S3 7HF UK.
Papers in Europe PMC - 04Abbas Z2 papers · 2026
Institut National de Santé Publique, d'Épidémiologie Clinique et de Toxicologie-Liban (INSPECT-LB), Beirut, Lebanon; Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon; Narcotics Department, Ministry of Public Health, Beirut, Lebanon.
Papers in Europe PMC - 05Abou Selwan C2 papers · 2026
Institut National de Santé Publique, d'Épidémiologie Clinique et de Toxicologie-Liban (INSPECT-LB), Beirut, Lebanon; Research Department, SciencePRO, Jal Eddib, Lebanon.
Papers in Europe PMC - 06Akel M2 papers · 2026
Institut National de Santé Publique, d'Épidémiologie Clinique et de Toxicologie-Liban (INSPECT-LB), Beirut, Lebanon.
Papers in Europe PMC - 07Basma S2 papers · 2026
Institut National de Santé Publique, d'Épidémiologie Clinique et de Toxicologie-Liban (INSPECT-LB), Beirut, Lebanon; Faculty of Pharmacy, Lebanese University, Hadat, Lebanon.
Papers in Europe PMC - 08Fu F2 papers · 2023
Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 09Haddad C2 papers · 2026
Institut National de Santé Publique, d'Épidémiologie Clinique et de Toxicologie-Liban (INSPECT-LB), Beirut, Lebanon; Inserm U1094, IRD UMR270, Univ. Limoges, CHU Limoges, EpiMaCT - Epidemiology of Chronic Diseases in Tropical Zone, Institute of Epidemiology and Global Health - Michel Dumas, OmegaHealth, Limoges, France; Research Department, Psychiatric Hospital of the Cross, Jal Eddib, Lebanon; Faculty of Public Health, Lebanese University, Fanar, Lebanon. Electronic address: chadia_9@hotmail.com.
Papers in Europe PMC - 10Hajj A2 papers · 2026
Institut National de Santé Publique, d'Épidémiologie Clinique et de Toxicologie-Liban (INSPECT-LB), Beirut, Lebanon; Faculté de Pharmacie, Université Laval, Québec, Canada; Oncology Division, CHU de Québec Université Laval Research Center, Québec, Canada.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
12
interventional trials for this specific condition
12 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
12 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.5th percentile).
high confidence · 92.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
12 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05939739·RECRUITING·Study of the Value of Trio Exome Sequencing in the Etiological Assessment of Specific Non-syndromic Language and Learning Disorders
Conditions: Specific Language and Learning Disorders (SLLD)·Matched via recall expansion
Observational and natural-history studies
7 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
- NCT07686653·NOT YET RECRUITING·A Study of the Value of Trio Genome Sequencing in the Etiological Evaluation of Early-Onset and/or Atypical Psychiatric Disorders Without Intellectual Disability or Congenital Anomalies
Conditions: Genetic · Diagnostic Strategies·Matched via recall expansion
- 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
- NCT06917378·RECRUITING·TRIO CTO (Taiwan Research Initiative on Coronary Total Occlusion)
Conditions: Chronic Total Occlusion (CTO)·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.
"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome" OR "MEBAS" OR "MRD44" OR "autosomal dominant intellectual disability 44" OR "intellectual developmental disorder, autosomal dominant 44, with microcephaly" OR "mercer-Ba syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome" OR "MEBAS" OR "MRD44" OR "autosomal dominant intellectual disability 44" OR "intellectual developmental disorder, autosomal dominant 44, with microcephaly" OR "mercer-Ba syndrome" OR "TRIO"
Recall-expansion terms: TRIO
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 12 interventional · 7 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 2026-07-27T17:07:00.682Z