pontocerebellar hypoplasia type 2E
Findings
No curated finding names pontocerebellar hypoplasia type 2E yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.
Definition from the Mondo Disease Ontology (MONDO:0014370), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
34 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.
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 10 of 10 reported patients · Childhood onset
- Cerebellar atrophyHPOHP:0001272
- 12 of 12 reported patients
- Cerebral atrophyHPOHP:0002059
- 12 of 12 reported patients
- EpicanthusHPOHP:0000286
- 2 of 2 reported patients
- Facial telangiectasiaHPOHP:0007380
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Hypertonia
Show the remaining 22
- OpisthotonusHPOHP:0002179
- 10 of 10 reported patients
- Secondary microcephalyHPOHP:0005484
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- Short noseHPOHP:0003196
- 2 of 2 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 10 of 10 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 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.
- VPS53HGNC:25608
- Definitive · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia type 2E
- Also called
- non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53VPS53 non-syndromic pontocerebellar hypoplasia