ORPHA:647788
Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
Also known as: DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder
Publications
510
80.7th percentile
Trials
0
Interventional, condition-specific
Researchers
164
Distinct authors in sample
Gene link
DHX30
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic without anomalies/specific characterized by delayed psychomotor development, severe , delayed or absent speech development, , ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioral abnormalities (including autistic features, aggressive behavior, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, , hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial , full eyelids, and eversion of the lower lip) may also be present.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0060622
- OMIM:617804
- UMLS:C4540496
Additional Mondo synonyms (3)
DHX30-related complex neurodevelopmental disorder · neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · neurodevelopmental disorder with severe motor impairment and absent language
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — DHX30
- LiteraturePresent
510 matched papers (392 in last 10 years) Source
- Phenotype characterisedPresent
56 HPO annotations (e.g. Delayed CNS myelination; Smooth philtrum; Cafe-au-lait spot) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (DHX30).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
56
Associated phenotypes · MONDO:0060622
- Delayed CNS myelination
- Smooth philtrum
- Cafe-au-lait spot
- Single transverse palmar crease
- Pes planus
Showing 5 of 56 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
510
510 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=3967) is 59.
510 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).
392 in the last 10 years · high confidence · 80.7th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
164
Distinct author names in 10 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Bierhals T2 papers · 2021
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Papers in Europe PMC - 02Hempel M2 papers · 2021
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Papers in Europe PMC - 03Lee J2 papers · 2022
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, South Korea.
Papers in Europe PMC - 04Lessel D2 papers · 2021
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Papers in Europe PMC - 05
- 06
- 07Abramson J1 paper · 2021
Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA.
Papers in Europe PMC - 08
- 09Alikasifoglu M1 paper · 2019
DAMAGEN Genetic Diagnostic Center, 06690 Ankara, Turkey.
Papers in Europe PMC - 10Alomaim MM1 paper · 2023
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.
Papers in Europe PMC
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome — check Associations / patient organisations on that page.
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.
("Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" OR "DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" OR "DHX30-related neurodevelopmental disorder" OR "DHX30-related complex neurodevelopmental disorder" OR "neurodevelopmental disorder with severe motor impairment and absent language") OR ("DHX30" OR "DHX30 syndrome" OR "DHX30-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" OR "DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" OR "DHX30-related neurodevelopmental disorder" OR "DHX30-related complex neurodevelopmental disorder" OR "neurodevelopmental disorder with severe motor impairment and absent language"
Study-type breakdown: 0 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
Ingested 2026-07-27T19:48:22.933Z