KIF11 encodes kinesin family member 11 (1,056 aa). Motor protein required for establishing a bipolar spindle and thus contributing to chromosome congression during mitosis. Highest expression in Cells EBV-transformed lymphocytes (53.2 TPM) and Testis (18.2 TPM).

Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability is caused by mutations in the KIF11 gene on chromosome 10.

KIF11 is classified as a druggable target (Druggable Genome category) with score 13.1.

Genetic testing for KIF11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability has been reported in the published literature.

Phenotype severity distribution: 3 common features.

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

No clinical trials have been registered for microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability.

214 publications have been identified in PubMed for microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability. Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (21%), and Case Report / Case Series (19%).

Recent Publications

• Musante I (2026). [PMID: 41325909](https://pubmed.ncbi.nlm.nih.gov/41325909/). *Neurobiol Dis*. [Basic Science / Preclinical]

• Rathore APS (2026). [PMID: 41860992](https://pubmed.ncbi.nlm.nih.gov/41860992/). *Sci Immunol*. [Review / Meta-Analysis]

• Kaplan-Kahn EA (2026). [PMID: 41355243](https://pubmed.ncbi.nlm.nih.gov/41355243/). *Autism*. [Epidemiology / Natural History]

• Srasuebkul P (2026). [PMID: 41638716](https://pubmed.ncbi.nlm.nih.gov/41638716/). *BMJ Open*. [Epidemiology / Natural History]

• Wingfield JL (2026). [PMID: 41844639](https://pubmed.ncbi.nlm.nih.gov/41844639/). *Nat Commun*. [Basic Science / Preclinical]

• Manav Yiğit Z (2026). [PMID: 41320952](https://pubmed.ncbi.nlm.nih.gov/41320952/). *Balkan Med J*. [Case Report / Case Series]

• Peña-Salazar C (2026). [PMID: 35925864](https://pubmed.ncbi.nlm.nih.gov/35925864/). *J Intellect Disabil*. [Review / Meta-Analysis]

• Xu H (2026). [PMID: 41189326](https://pubmed.ncbi.nlm.nih.gov/41189326/). *HGG Adv*. [Basic Science / Preclinical]

• González-Blanco A (2026). [PMID: 41820377](https://pubmed.ncbi.nlm.nih.gov/41820377/). *Nat Commun*. [Basic Science / Preclinical]

• Degenhardt F (2026). [PMID: 41257338](https://pubmed.ncbi.nlm.nih.gov/41257338/). *Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie*. [Review / Meta-Analysis]