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ORPHA:528084

Non-specific syndromic intellectual disability

low confidenceDisorder

Also known as: Complex neurodevelopmental disorder

Publications

36,636

Trials

2

Interventional, condition-specific

Researchers

1,240

Distinct authors in sample

Gene link

ABCB5, AGO1, ALDH1B1

Definitive

Readiness

5/6

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.”

5/6 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

    36,636 matched papers (22,247 in last 10 years) Source

  3. Phenotype characterisedPresent

    4,951 HPO annotations (e.g. Progressive microcephaly; Strabismus; Motor stereotypy) Source

  4. Animal modelPresent

    288 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 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)

4,951

Associated phenotypes · MONDO:0100038

  • Progressive microcephaly
  • Strabismus
  • Motor stereotypy
  • Motor delay
  • Visual impairment

Showing 5 of 4951 — open Monarch for the full list.

Animal models (Monarch / Alliance)

288

Model associations linked to this Mondo ID

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?

36,636

36,636 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.

36,636 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).

22,247 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?

2

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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).

Uncertain / not reviewed (12)

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 Non-specific syndromic intellectual disability — check Associations / patient organisations on that page.

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") OR ("ABCB5" OR "ABCB5 syndrome" OR "ABCB5-related" OR "AGO1" OR "AGO1 syndrome" OR "AGO1-related" OR "ALDH1B1" OR "ALDH1B1 syndrome" OR "ALDH1B1-related")

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"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 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

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 (36636) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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