pontocerebellar hypoplasia, type 2F
Findings
No curated finding names pontocerebellar hypoplasia, type 2F 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 TSEN15 gene.
Definition from the Mondo Disease Ontology (MONDO:0014874), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
20 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
- 2 of 2 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Extra-axial cerebrospinal fluid accumulationHPOHP:0012510
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 2 of 2 reported patients
- Intellectual disability
Show the remaining 8
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- Thin corpus callosumHPOHP:0033725
- 1 of 2 reported patients
- Appendicular spasticityHPOHP:0034353
- 1 of 4 reported patients
- Babinski signHPOHP:0003487
- 1 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 4 reported patients
- HyporeflexiaHPOHP:0001265
- 1 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.
- TSEN15HGNC:16791
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2016
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: pontocerebellar hypoplasia, type 2F
- Also called
- non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15PCH2Fpontocerebellar hypoplasia, type 2F; PCH2FTSEN15 non-syndromic pontocerebellar hypoplasia