ORPHA:284271
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Also known as: Autosomal recessive spinocerebellar ataxia type 11 · SCAR11
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
46
47.5th percentile
Trials
0
Interventional, condition-specific
Researchers
307
Distinct authors in sample
Gene link
SYT14
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, , cerebellar disorder characterized by late-onset spinocerebellar , manifesting with slowly gait disturbances, dysarthria, limb and truncal , and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.
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:0013645
- OMIM:614229
- UMLS:C5190803
Additional Mondo synonyms (5)
SYT14 autosomal recessive syndromic cerebellar ataxia · autosomal recessive spinocerebellar ataxia 11 · autosomal recessive spinocerebellar ataxia type 11 · autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14 · spinocerebellar ataxia, autosomal recessive type 11
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Limited — SYT14
- LiteraturePresent
46 matched papers (36 in last 10 years) 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 trialPartial
None under the specific name; 2 for broader category autosomal recessive cerebellar ataxia
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?
Possibly — only limited evidence so far for SYT14.
GenCC classification: Limited.
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?
46
46 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
46 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).
36 in the last 10 years · high confidence · 47.5th percentile (publications denominator)
Phrase hits: 46 · MeSH hits: 0
Who's working on it?
307
Distinct author names in 46 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.
- 01Chen H2 papers · 2025
Department of Cardiology, National Cardiovascular Disease Regional Center for Anhui, the First Affiliated Hospital of Anhui Medical University, No.218 Jixi Road, Hefei, Anhui, 230022, China.
Papers in Europe PMC - 02Hu J2 papers · 2025
The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.
Papers in Europe PMC - 03Lang F2 papers · 2016Papers in Europe PMC
- 04
- 05Liu Y2 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 06Wang F2 papers · 2021
Department of Neurology, General Hospital, 117865Tianjin Medical University, Tianjin, China.
Papers in Europe PMC - 07Wang J2 papers · 2025
Affiliated Drum Tower Hospital, Medical School, Nanjing University, No.321 Zhongshan Road, Nanjing, Jiangsu, 210008, China.
Papers in Europe PMC - 08
- 09Adedoyin OT1 paper · 2020
Department of Paediatrics, University of Ilorin, Ilorin, Nigeria.
Papers in Europe PMC - 10Aderounmu A1 paper · 2023
Department of Surgery, Obafemi Awolowo University Teaching Hospitals Complex, Obafemi Awolowo University, Osun State, Nigeria.
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). 2 trials are registered for autosomal recessive cerebellar ataxia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
2 interventional trials matched autosomal recessive cerebellar ataxia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autosomal recessive cerebellar ataxia
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04261127·RECRUITING·Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
Conditions: Autosomal Recessive Cerebellar Ataxia·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome" OR "Autosomal recessive spinocerebellar ataxia type 11" OR "SCAR11" OR "SYT14 autosomal recessive syndromic cerebellar ataxia" OR "autosomal recessive spinocerebellar ataxia 11" OR "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14" OR "spinocerebellar ataxia, autosomal recessive type 11"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome" OR "Autosomal recessive spinocerebellar ataxia type 11" OR "SCAR11" OR "SYT14 autosomal recessive syndromic cerebellar ataxia" OR "autosomal recessive spinocerebellar ataxia 11" OR "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14" OR "spinocerebellar ataxia, autosomal recessive type 11" OR "SYT14" OR "autosomal recessive syndromic cerebellar ataxia"
Recall-expansion terms: SYT14, autosomal recessive syndromic cerebellar ataxia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal recessive cerebellar ataxia"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T12:02:32.653Z