Features include always present findings: Cerebellar hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum, and Motor delay and others; and very common findings: Spastic tetraplegia, Absent speech, and Brisk reflexes. 22 total HPO annotations.

PPIL1 function has not been fully characterized.

Pontocerebellar hypoplasia, type 14 is associated with mutations in the PPIL1 gene on chromosome 6.

Genetic testing for PPIL1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 3 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for pontocerebellar hypoplasia, type 14.

9 publications have been identified in PubMed for pontocerebellar hypoplasia, type 14. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (22%).

Recent Publications

• Drobňaková S (2026). [PMID: 42195294](https://pubmed.ncbi.nlm.nih.gov/42195294/). *Life (Basel)*. [Epidemiology / Natural History]

• Abdel-Salam GMH (2026). [PMID: 41436176](https://pubmed.ncbi.nlm.nih.gov/41436176/). *J Med Genet*. [Case Report / Case Series]

• Arkush L (2025). [PMID: 40745490](https://pubmed.ncbi.nlm.nih.gov/40745490/). *Eur J Hum Genet*. [Case Report / Case Series]

• van Noort SAM (2025). [PMID: 41427983](https://pubmed.ncbi.nlm.nih.gov/41427983/). *Cerebellum*. [Basic Science / Preclinical]

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