Features include always present findings: Seizure, Agenesis of corpus callosum, Agyria, and Downturned corners of mouth and others. 22 total HPO annotations.

CDK5 encodes cyclin dependent kinase 5 (292 aa). Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Highest expression in Brain Frontal Cortex BA9 (83.2 TPM) and Brain Cortex (69.4 TPM).

Lissencephaly 7 with cerebellar hypoplasia is associated with mutations in the CDK5 gene on chromosome 7.

CDK5 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Tumor Suppressor categories) with score 0.4.

Genetic testing for CDK5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for lissencephaly 7 with cerebellar hypoplasia has been reported in the published literature.

Phenotype severity distribution: 17 always present features.

No clinical trials have been registered for lissencephaly 7 with cerebellar hypoplasia.

6 publications have been identified in PubMed for lissencephaly 7 with cerebellar hypoplasia. Research spans Basic Science / Preclinical (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

• Hwang S (2026). [PMID: 41152456](https://pubmed.ncbi.nlm.nih.gov/41152456/). *Journal of human genetics*. [Epidemiology / Natural History]

• Achkasova KA (2026). [PMID: 41892327](https://pubmed.ncbi.nlm.nih.gov/41892327/). *Cells*. [Review / Meta-Analysis]

• Moirangthem A (2025). [PMID: 40186457](https://pubmed.ncbi.nlm.nih.gov/40186457/). *Clinical genetics*. [Gene Therapy / Novel Therapeutics]

• Yin S (2025). [PMID: 41459643](https://pubmed.ncbi.nlm.nih.gov/41459643/). *eLife*. [Basic Science / Preclinical]

• Duymuş AC (2025). [PMID: 41462156](https://pubmed.ncbi.nlm.nih.gov/41462156/). *BMC pregnancy and childbirth*. [Diagnostic / Biomarker]