isolated cerebellar hypoplasia/agenesis
Findings
No curated finding names isolated cerebellar hypoplasia/agenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
Definition from the Mondo Disease Ontology (MONDO:0008939), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar hypoplasiaHPOHP:0001321
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of eye movementHPOHP:0000496
- Very frequent (80% to 99% of cases)
- Ataxia
Show the remaining 3
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 2 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- OXR1HGNC:15822
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
6 names
Resolves to: isolated cerebellar hypoplasia/agenesis
- Also called
- cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayChiari 4 malformationChiari IV malformationcongenital cerebellar Hypoplasianear total absence of cerebellumsubtotal absence of cerebellum