ORPHA:1398
Isolated cerebellar agenesis
Also known as: Near total absence of cerebellum · Subtotal absence of cerebellum
Publications
9
17.7th percentile
Trials
0
Interventional, condition-specific
Researchers
55
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare non-syndromic central nervous system characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes , dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and .
How rare: How common this is has not been clearly measured.
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
9 matched papers (4 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 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?
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?
9
9 papers have ever been indexed 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.
9 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).
4 in the last 10 years · high confidence · 17.7th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
55
Distinct author names in 9 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.
- 01Borgatti R2 papers · 2017
Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Papers in Europe PMC - 02Casartelli L2 papers · 2025
Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy; luca.casartelli@emedea.it.
Papers in Europe PMC - 03Antonietti A1 paper · 2025
Department of Electronics, Information and Bioengineering, Politecnico di Milano, Milano, Italy.
Papers in Europe PMC - 04Arpaia C1 paper · 2024
Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.
Papers in Europe PMC - 05Arrigoni F1 paper · 2015
aNeuroimaging Unit bNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute, Lecco cDepartment of Information Engineering, University of Padova, Padova dMandel Laboratory, Scientific Institute, San Giovanni Rotondo, Italy.
Papers in Europe PMC - 06Barresi S1 paper · 2022
Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Viale di San Paolo 15, I-00146 Rome, Italy.
Papers in Europe PMC - 07Bellacchio E1 paper · 2022
Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Viale di San Paolo 15, I-00146 Rome, Italy.
Papers in Europe PMC - 08Bertini E1 paper · 2022
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Viale di San Paolo 15, I-00146 Rome, Italy.
Papers in Europe PMC - 09Biffi E1 paper · 2017
Bioengeenering Laboratory, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Papers in Europe PMC - 10Bilovocky NA1 paper · 2003
Alzheimer Research Laboratory, University Hospitals Research Institute, Department of Neurosciences, Case Western Reserve University, School of Medicine, Cleveland, Ohio 44106, USA.
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Isolated cerebellar agenesis" OR "Near total absence of cerebellum" OR "Near total absence of the cerebellum" OR "Subtotal absence of cerebellum" OR "Subtotal absence of the cerebellum"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated cerebellar agenesis" OR "Near total absence of cerebellum" OR "Near total absence of the cerebellum" OR "Subtotal absence of cerebellum" OR "Subtotal absence of the cerebellum"
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 2026-07-26T17:14:37.859Z