pontocerebellar hypoplasia type 2B
Findings
No curated finding names pontocerebellar hypoplasia type 2B 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 TSEN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012890), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
25 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.
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 2 of 2 reported patients
- ChoreaHPOHP:0002072
- 1 of 1 reported patient
- ClonusHPOHP:0002169
Show the remaining 13
- OpisthotonusHPOHP:0002179
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- Progressive microcephalyHPOHP:0000253
- 3 of 3 reported patients
- Simplified gyral patternHPOHP:0009879
- 1 of 1 reported patient
- Single transverse palmar creaseHPOHP:0000954
- 1 of 1 reported patient
- Sloping foreheadHPOHP:0000340
- 1 of 1 reported patient
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.
- TSEN2HGNC:28422
- Strong · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia type 2B
- Also called
- non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2TSEN2 non-syndromic pontocerebellar hypoplasia