pontocerebellar hypoplasia type 4
Findings
No curated finding names pontocerebellar hypoplasia type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
Definition from the Mondo Disease Ontology (MONDO:0009166), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
21 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.
- DysphagiaHPOHP:0002015
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- GliosisHPOHP:0002171
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 4 of 4 reported patients · Congenital onset
- Frequent (30% to 79% of cases)
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 1 reported patient
- Loss of Purkinje cells in the cerebellar vermisHPOHP:0007001
- 1 of 1 reported patient
- Myoclonus
Show the remaining 9
- Central apneaHPOHP:0002871
- Frequent (30% to 79% of cases)
- Hypoplasia of the brainstemHPOHP:0002365
- Frequent (30% to 79% of cases)
- Olivopontocerebellar hypoplasiaHPOHP:0006955
- Frequent (30% to 79% of cases)
- Primary microcephalyHPOHP:0011451
- Frequent (30% to 79% of cases)
- Respiratory failure requiring assisted ventilationHPOHP:0004887
- Frequent (30% to 79% of cases)
- Congenital contractureHPOHP:0002803
- 2 of 4 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.
- TSEN54HGNC:27561
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: pontocerebellar hypoplasia type 4
- Also called
- fatal infantile encephalopathy with olivopontocerebellar hypoplasiaolivopontocerebellar hypoplasiaPCH4