Rare diseases · Sign or symptom
Cerebellar vermis hypoplasia
HP:0001320
What it means
Underdevelopment of the vermis of cerebellum.
Rare diseases that can present with this51
Very common80–99%
10- Amish lethal microcephaly
- Gómez-López-Hernández syndrome
- Isolated Joubert syndrome
- Joubert syndrome with hepatic defect
- Joubert syndrome with ocular anomaly
- Joubert syndrome with oculorenal defect
- Joubert syndrome with renal defect
- Pontocerebellar hypoplasia type 2
- Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- Tubulinopathy-associated dysgyria
Common30–79%
16- Ataxia-telangiectasia-like disorder
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Bilateral frontoparietal polymicrogyria
- Cerebello-oculo-facio-genital syndrome
- Cerebrofaciothoracic dysplasia
- COG1-CDG
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- De Barsy syndrome
- Lissencephaly due to TUBA1A mutation
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- Wrinkly skin syndrome
- X-linked cerebral-cerebellar-coloboma syndrome
- X-linked non progressive cerebellar ataxia
- Zechi-Ceide syndrome
Sometimes5–29%
20- Autosomal recessive cutis laxa type 2A
- Bainbridge-Ropers syndrome
- Bilateral perisylvian polymicrogyria
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Cerebrofacioarticular syndrome
- Congenital muscular dystrophy with intellectual disability
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
and 12 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: Cerebellar vermal hypoplasia · Hypoplasia of the cerebellar vermis · Hypoplastic cerebellar vermis
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.