ORPHA:660017
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
Query health: suspect — Only one of 2 strategies returned hits (recall-expansion).
Publications
0
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
NR4A2
Strong
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by early-onset global , , speech and language impairment, early-onset and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of (including tonic-clonic, focal, generalized and absence , spasms and rolandic ) and behavioral problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild . Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbor 2q24 microdeletion including the NR4A2 gene or have de novo mutations in this gene.
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:0859257
- OMIM:619911
- UMLS:C5677001
Additional Mondo synonyms (1)
NR4A2-related neurodevelopmental syndrome
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Strong — NR4A2
- 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 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 (NR4A2).
GenCC classification: Strong.
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 · low confidence
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?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
Broader category dopa-responsive dystonia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: dopa-responsive dystonia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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.
"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome" OR "NR4A2-related neurodevelopmental syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome" OR "NR4A2-related neurodevelopmental syndrome" OR "NR4A2" OR "autosomal dominant dopa-responsive dystonia"
Recall-expansion terms: NR4A2, autosomal dominant dopa-responsive dystonia
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"dopa-responsive dystonia"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: recall-expansion
Parent literature probe: dopa-responsive dystonia (MONDO:0016812) — 1462 hits
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "NR4A2-related neurodevelopmental syndrome" also appears on ORPHA:660012
- Zero publications but GenCC Strong — literature likely indexed under another name; excluded from neglect count
Ingested 2026-07-27T20:08:30.421Z · excluded from neglect metrics