Features include always present findings: Hypoplasia of the brainstem, Delayed fine motor development, Severe intellectual disability, and Cerebellar hypoplasia and others; and very common findings: Brisk reflexes and Spastic tetraplegia. 23 total HPO annotations.

CDC40 encodes cell division cycle 40 (579 aa). Required for pre-mRNA splicing as component of the activated spliceosome. Plays an important role in embryonic brain development; this function does not require proline isomerization Highest expression in Cells EBV-transformed lymphocytes (24.7 TPM) and Cells Cultured fibroblasts (18.0 TPM).

Pontocerebellar hypoplasia, type 15 is associated with mutations in the CDC40 gene on chromosome 6.

CDC40 is classified as a druggable target with score 0.0.

Genetic testing for CDC40 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 2 very common features, 5 common features.

No clinical trials have been registered for pontocerebellar hypoplasia, type 15.

2 publications have been identified in PubMed for pontocerebellar hypoplasia, type 15. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Case Report / Case Series]

• Olimpio C (2024). [PMID: 38759022](https://pubmed.ncbi.nlm.nih.gov/38759022/). *J Neuromuscul Dis*. [Basic Science / Preclinical]