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ORPHA:528084

Non-specific syndromic intellectual disability

low confidenceDisorder

Also known as: Complex neurodevelopmental disorder

Publications

1,456

Trials

13

Interventional, condition-specific

Researchers

1,240

Distinct authors in sample

Gene link

ABCB5, AGO1, ALDH1B1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic characterized by the association of with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

complex neurodevelopmental disorder

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 — ABCB5, AGO1, ALDH1B1, ALDH1L2, ALDOB…

  2. LiteraturePresent

    1,456 matched papers (1,181 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

    13 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 (ABCB5, AGO1, ALDH1B1…).

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?

1,456

1,456 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,456 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).

1,181 in the last 10 years · low confidence

Phrase hits: 1,456 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,240

Distinct author names in 200 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
    Liu Y9 papers · 2026

    Department of Pediatrics, Affiliated Hospital of Jiangnan University, Wuxi, People's Republic of China.

    Papers in Europe PMC
  2. 02
    Zhang X8 papers · 2026

    State Key Laboratory of Cognitive Neuroscience and Learning and IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, China.

    Papers in Europe PMC
  3. 03
    Wang J6 papers · 2026

    School of Public Health, Harbin Medical University, Harbin, Heilongjiang, China.

    Papers in Europe PMC
  4. 04
    Chen Z5 papers · 2026

    School of Electrical and Information Engineering, Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  5. 05
    Jiang Y5 papers · 2026

    Linping Campus, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Liu X5 papers · 2026

    Department of Neurosurgery, Qilu Hospital, Shandong University, Jinan 250012, China; Insititute of Food & Nutrition Science and Technology, Shandong Academy of Agricultural Science, Jinan 250100, China.

    Papers in Europe PMC
  7. 07
    Yang Y5 papers · 2026

    School of Public Health, Harbin Medical University, Harbin, Heilongjiang, China.

    Papers in Europe PMC
  8. 08
    Zhang J5 papers · 2026

    Department of Pediatrics, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, China.

    Papers in Europe PMC
  9. 09
    Chen S4 papers · 2026

    Division of Nursing, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

    Papers in Europe PMC
  10. 10
    Wang H4 papers · 2026

    Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

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

Data as of 27 July 2026

13 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.8th percentile).

low confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

13 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.

None of the matched observational studies is currently listed as 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.

"Non-specific syndromic intellectual disability" OR "Complex neurodevelopmental disorder"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Non-specific syndromic intellectual disability" OR "Complex neurodevelopmental disorder" OR "ABCB5" OR "AGO1" OR "ALDH1B1"

Recall-expansion terms: ABCB5, AGO1, ALDH1B1

Interventional trials matched via: phrase, 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: 13 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1456) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T18:05:17.084Z