Rare diseases · Sign or symptom
Abnormal cerebellum morphology
Abnormality of the cerebellum
HP:0001317
What it means
Any structural abnormality of the cerebellum.
A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors.
Rare diseases that can present with this46
Very common80–99%
4Common30–79%
16- Acute disseminated encephalomyelitis
- Autosomal recessive cutis laxa type 2A
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 5A
- Bilateral frontoparietal polymicrogyria
- Cerebrotendinous xanthomatosis
- Combined oxidative phosphorylation defect type 39
- Congenital muscular dystrophy with cerebellar involvement
- FG syndrome type 1
- Gerstmann-Straussler-Scheinker syndrome
- Giant axonal neuropathy
- Kjellin syndrome
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Spinocerebellar ataxia type 12
- SRD5A3-CDG
Sometimes5–29%
21- Amoebiasis due to free-living amoebae
- Autosomal dominant spastic paraplegia type 9A
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 62
- Cowden syndrome
- DPAGT1-CDG
- Dural sinus malformation with arteriovenous shunt
and 13 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cerebellar abnormalities · Cerebellar abnormality · Cerebellar anomaly · Cerebellar signs
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.