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ORPHA:589547

GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

medium confidenceDisorder

Also known as: GRIN2B-Related Neurodevelopmental Disorder

Publications

33

45.2th percentile

Trials

1

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GRIN2B

  2. LiteraturePresent

    33 matched papers (32 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 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 (GRIN2B).

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?

33

33 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.

33 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).

32 in the last 10 years · medium confidence · 45.2th percentile (publications denominator)

Phrase hits: 33 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

365

Distinct author names in 33 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.

  1. 01
    Brands 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
  2. 02
    den 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
  3. 03
    Elbracht M2 papers · 2025

    Uniklinik RWTH Aachen Center for Human Genetics and Genomic Medicine Pauwelsstr. 30 52074 Aachen Germany.

    Papers in Europe PMC
  4. 04
    Garin-Shkolnik T2 papers · 2024

    Clalit health services, Tel Aviv, Israel.

    Papers in Europe PMC
  5. 05
    Gonzalez-Sulser A2 papers · 2025

    Institute for Neuroscience and Cardiovascular Research, The University of Edinburgh, Edinburgh, UK.

    Papers in Europe PMC
  6. 06
    Hristova K2 papers · 2025

    Institute for Neuroscience and Cardiovascular Research, The University of Edinburgh, Edinburgh, UK.

    Papers in Europe PMC
  7. 07
    Jacobs BAW2 papers · 2023

    Medicine for Society, Platform at Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.

    Papers in Europe PMC
  8. 08
    Krey-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
  9. 09
    Rothuizen-Lindenschot M2 papers · 2023

    HAN University of Applied Sciences, Nijmegen, the Netherlands.

    Papers in Europe PMC
  10. 10
    van 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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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"

Run this search on Europe PMC

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" OR "GRIN2B"

Recall-expansion terms: GRIN2B

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: 1 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

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

Ingested 2026-07-27T18:46:15.894Z