ORPHA:589547
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Also known as: GRIN2B-Related Neurodevelopmental Disorder
Publications
28,229
Trials
0
Interventional, condition-specific
Researchers
365
Distinct authors in sample
Gene link
GRIN2B
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic syndromic characterized by or childhood onset of mild to profound and in all affected individuals, as well as variable occurrence of , autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal .
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:0035122
- MONDO:0013509
- OMIM:613970
- UMLS:C3151411
Additional Mondo synonyms (7)
GRIN2B autosomal dominant non-syndromic intellectual disability · MRD6 · autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B · intellectual developmental disorder, autosomal dominant 6, with or without seizures · intellectual disability, autosomal dominant 6 · intellectual disability, autosomal dominant type 6 · mental retardation, autosomal dominant type 6
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
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 — GRIN2B
- LiteraturePresent
28,229 matched papers (15,760 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Bilateral tonic-clonic seizure; EEG abnormality; Choanal atresia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (GRIN2B).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
19
Associated phenotypes · MONDO:0035122
- Bilateral tonic-clonic seizure
- EEG abnormality
- Choanal atresia
- Inguinal hernia
- Focal impaired awareness seizure
Showing 5 of 19 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
28,229
28,229 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
28,229 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
15,760 in the last 10 years · low confidence
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
365
Distinct author names in 33 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.
- 01Brands MM2 papers · 2023
Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.
Papers in Europe PMC - 02den Hollander B2 papers · 2023
Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.
Papers in Europe PMC - 03Elbracht M2 papers · 2025
Uniklinik RWTH Aachen Center for Human Genetics and Genomic Medicine Pauwelsstr. 30 52074 Aachen Germany.
Papers in Europe PMC - 04
- 05Gonzalez-Sulser A2 papers · 2025
Institute for Neuroscience and Cardiovascular Research, The University of Edinburgh, Edinburgh, UK.
Papers in Europe PMC - 06Hristova K2 papers · 2025
Institute for Neuroscience and Cardiovascular Research, The University of Edinburgh, Edinburgh, UK.
Papers in Europe PMC - 07Jacobs BAW2 papers · 2023
Medicine for Society, Platform at Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
Papers in Europe PMC - 08Krey-Grauert I2 papers · 2025
University of Leipzig Medical Center Leipzig Institute of Human Genetics Philipp-Rosenthal-Str. 55 04103 Leipzig Germany.
Papers in Europe PMC - 09Rothuizen-Lindenschot M2 papers · 2023
HAN University of Applied Sciences, Nijmegen, the Netherlands.
Papers in Europe PMC - 10van Karnebeek CD2 papers · 2023
Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder — check Associations / patient organisations on that page.
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.
("GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder" OR "GRIN2B-Related Neurodevelopmental Disorder" OR "GRIN2B autosomal dominant non-syndromic intellectual disability" OR "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B" OR "intellectual developmental disorder, autosomal dominant 6, with or without seizures" OR "intellectual disability, autosomal dominant 6" OR "intellectual disability, autosomal dominant type 6" OR "mental retardation, autosomal dominant type 6") OR ("GRIN2B" OR "GRIN2B syndrome" OR "GRIN2B-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder" OR "GRIN2B-Related Neurodevelopmental Disorder" OR "GRIN2B autosomal dominant non-syndromic intellectual disability" OR "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B" OR "intellectual developmental disorder, autosomal dominant 6, with or without seizures" OR "intellectual disability, autosomal dominant 6" OR "intellectual disability, autosomal dominant type 6" OR "mental retardation, autosomal dominant type 6"
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
Synonyms dropped by stoplist: MRD6
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (28229) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T18:46:15.894Z