pontocerebellar hypoplasia type 2A
MONDO:0010190Mondo
Findings
No curated finding names pontocerebellar hypoplasia type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Progressive microcephalyHPOHP:0000253
- 33 of 33 reported patients
- DysphagiaHPOHP:0002015
- 30 of 32 reported patients
- Visual impairmentHPOHP:0000505
- 30 of 32 reported patients
- ChoreaHPOHP:0002072
- 31 of 34 reported patients
- DystoniaHPOHP:0001332
- 31 of 34 reported patients
- Congenital contractureHPOHP:0002803
- 0 of 34 reported patients
- Optic atrophyHPOHP:0000648
- 0 of 25 reported patients
- PolyhydramniosHPOHP:0001561
- 0 of 34 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- MicrocephalyHPOHP:0000252
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.
- TSEN54HGNC:27561
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia type 2A
- Also called
- pontocerebellar hypoplasia type 2 caused by mutation in TSEN54TSEN54 pontocerebellar hypoplasia type 2