pontocerebellar hypoplasia type 2D
Findings
No curated finding names pontocerebellar hypoplasia type 2D 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 SEPSECS gene.
Definition from the Mondo Disease Ontology (MONDO:0013438), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Appendicular spasticityHPOHP:0034353
- 3 of 3 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Paroxysmal tonic upgazeHPOHP:0033980
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 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.
- HGNC:30605HGNC:30605
- Definitive · G2P · Autosomal recessive · 2019
- Definitive · Broad Center for Mendelian Genomics · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia type 2D
- Also called
- non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECSSEPSECS non-syndromic pontocerebellar hypoplasia