Rare diseases · Sign or symptom
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
HP:0007360
Rare diseases that can present with this52
Very common80–99%
14- Acalvaria
- Agnathia-holoprosencephaly-situs inversus syndrome
- Ataxia-pancytopenia syndrome
- CAMOS syndrome
- COFS syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Joubert syndrome with hepatic defect
- Linear nevus sebaceus syndrome
- Oculocerebral hypopigmentation syndrome, Preus type
- Pontocerebellar hypoplasia type 1
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- Spinocerebellar ataxia-dysmorphism syndrome
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Common30–79%
15- 3C syndrome
- Aicardi syndrome
- Ataxia-deafness-intellectual disability syndrome
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Diabetic embryopathy
- Isolated exencephaly
- L-2-hydroxyglutaric aciduria
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Oculodentodigital dysplasia
- Severe oculo-renal-cerebellar syndrome
- Smith-Lemli-Opitz syndrome
- Spastic ataxia-corneal dystrophy syndrome
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Sometimes5–29%
23- 3-hydroxyisobutyric aciduria
- Acrocallosal syndrome
- Adult-onset autosomal dominant leukodystrophy
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Aminopterin/methotrexate embryofetopathy
- Ataxia-tapetoretinal degeneration syndrome
- Carey-Fineman-Ziter syndrome
- CHARGE syndrome
and 15 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Absent/underdeveloped cerebellum · Atrophy/Degeneration affecting the cerebellum · Atrophy/Hypoplasia of the cerebellum · Cerebellar hypoplasia/atrophy
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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.