ORPHA:730421
Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder
Query health: suspect — Source fetch failed for trials.
Publications
0
1.9th percentile
Trials
—
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
—
Readiness
0/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurodevelopmental disorder characterized by the combination of at least two neurodevelopmental disorders, including specific learning disorder (e.g., impairment in reading, written expression, or mathematics), motor disorder (e.g. developmental coordination disorder, stereotypic movement disorder, tic disorder), communication disorder (e.g., developmental language disorder, speech sound disorder, childhood-onset fluency disorder, social/pragmatic communication disorder), attention deficit/hyperactivity disorder (ADD/ADHD) and other specified or unspecified neurodevelopmental disorders as defined in DSM-5 or ICD-11. Patients don't reach the criteria of an autism spectrum disorder diagnosis, do not have but can present with unspecific features and/or anomalies.
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.”
0/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteratureNot found
No matched Europe PMC hits under our query rules 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 checked
Trial fetch failed or incomplete
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · high confidence · 1.9th percentile (publications denominator)
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
high confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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.
"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Query health: suspect — strategies attempted: phrase; with hits: none
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Complex%20neurodevelopmental%20disorder%20with%20unspecific%20dysmorphic%20features%2Fcongenital%20anomalies%20without%20intellectual%20disability%20or%20autism%20spectrum%20disorder%22&format=json&pageSize=100&countTotal=true
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 2026-07-27T21:36:18.441Z