Features include always present findings: Strabismus, Enlarged cisterna magna, Enlarged brain ventricles (ventriculomegaly), and Low hanging columella and others; and common findings: Narrow forehead, Hypermetropia, Seizure, and Syringomyelia and others. 46 total HPO annotations.

CLP1 encodes cleavage factor polyribonucleotide kinase subunit 1 (425 aa). Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double-stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. Highest expression in Cells EBV-transformed lymphocytes (19.7 TPM) and Cells Cultured fibroblasts (19.7 TPM).

Pontocerebellar hypoplasia type 10 is associated with mutations in the CLP1 gene on chromosome 11.

CLP1 is classified as a druggable target (Clinically Actionable, Enzyme, and Kinase categories) with score 0.0.

Genetic testing for CLP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pontocerebellar hypoplasia type 10 has been reported in the published literature.

Phenotype severity distribution: 17 always present features, 14 common features.

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

No clinical trials have been registered for pontocerebellar hypoplasia type 10.

69 publications have been identified in PubMed for pontocerebellar hypoplasia type 10. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (12%).