Features include very common findings: Severe intellectual disability; and common findings: Strabismus, Microcephaly, Delayed gross motor development, and Optic nerve hypoplasia and others. 27 total HPO annotations.

KIF14 encodes kinesin family member 14 (1,648 aa). Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity. Highest expression in Cells EBV-transformed lymphocytes (16.3 TPM) and Cells Cultured fibroblasts (5.9 TPM).

Microcephaly 20, primary, autosomal recessive is associated with mutations in the KIF14 gene on chromosome 1.

The KIF14 protein participates in RHO GTPases activate CIT, Signaling by Rho GTPases, and RHO GTPase Effectors pathways.

KIF14 is classified as a druggable target with score 0.0.

Genetic testing for KIF14 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 very common feature, 5 common features.

No clinical trials have been registered for microcephaly 20, primary, autosomal recessive.

2 publications have been identified in PubMed for microcephaly 20, primary, autosomal recessive. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Ahmad B (2026). [PMID: 42249392](https://pubmed.ncbi.nlm.nih.gov/42249392/). *BMC Neurol*. [Epidemiology / Natural History]

• Wang J (2024). [PMID: 39344621](https://pubmed.ncbi.nlm.nih.gov/39344621/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]