ORPHA:363686
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
21
32th percentile
Trials
0
Interventional, condition-specific
Researchers
171
Distinct authors in sample
Gene link
GATAD2B
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic disorder characterized by global development delay with very limited or absent speech and language, severe , long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.
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:0014034
- OMIM:615074
- UMLS:C3554448
Additional Mondo synonyms (6)
GAND syndrome · MRD18 · autosomal dominant intellectual disability 18 · intellectual disability, autosomal dominant type 18 · mental retardation, autosomal dominant type 18 · severe intellectual disability-poor language-strabismus-grimacing face-long fingers 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.”
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
Definitive — GATAD2B
- LiteraturePresent
21 matched papers (14 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 (GATAD2B).
GenCC classification: Definitive.
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?
21
21 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.
21 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).
14 in the last 10 years · high confidence · 32th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
171
Distinct author names in 21 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.
- 01Abarca Barriga HH1 paper · 2019
Servicio de Genética & Errores Innatos del Metabolismo (EIM), Instituto Nacional de Salud del Niño-Breña.
Papers in Europe PMC - 02Afenjar A1 paper · 2022
Assistance publique - Hôpitaux de Paris, Département de Génétique, Sorbonne Université, GRC No. 19, ConCer-LD, Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital Armand Trousseau, Paris, France.
Papers in Europe PMC - 03AlHarbi S1 paper · 2024
Department of Pediatric Oncology, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia.
Papers in Europe PMC - 04Althubaiti S1 paper · 2024
Department of Pediatric Oncology, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia.
Papers in Europe PMC - 05Arboleda VA1 paper · 2024
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
Papers in Europe PMC - 06Arons E1 paper · 2023
Laboratory of Molecular Biology, National Institutes of Health, Bethesda, MD.
Papers in Europe PMC - 07Aroor S1 paper · 2024
Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 08Ashi A1 paper · 2024
King Abdullah International Medical Research Center, King Abdul Aziz Medical City, Jeddah, Saudi Arabia.
Papers in Europe PMC - 09
- 10Bamba K1 paper · 1996Papers 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.
"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" OR "GAND syndrome" OR "MRD18" OR "autosomal dominant intellectual disability 18" OR "intellectual disability, autosomal dominant type 18" OR "mental retardation, autosomal dominant type 18"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" OR "GAND syndrome" OR "MRD18" OR "autosomal dominant intellectual disability 18" OR "intellectual disability, autosomal dominant type 18" OR "mental retardation, autosomal dominant type 18" OR "GATAD2B" OR "intellectual disability, autosomal dominant"
Recall-expansion terms: GATAD2B, intellectual disability, autosomal dominant
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T14:41:36.750Z