Features include always present findings: Sloping forehead, Thick eyebrow, Delayed speech and language development, and Short stature and others; and common findings: Cerebellar vermis hypoplasia. 16 total HPO annotations.

KNL1 encodes kinetochore scaffold 1 (2,342 aa). Acts as a component of the outer kinetochore KNL1 complex that serves as a docking point for spindle assembly checkpoint components and mediates microtubule-kinetochore interactions. Highest expression in Testis (24.2 TPM) and Cells EBV-transformed lymphocytes (18.3 TPM).

Microcephaly 4, primary, autosomal recessive is associated with mutations in the KNL1 gene on chromosome 15.

The KNL1 protein participates in Kinetochore capture of astral microtubules and Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2 pathways.

KNL1 is classified as a druggable target (Clinically Actionable and Kinase categories) with score 0.0.

Genetic testing for KNL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcephaly 4, primary, autosomal recessive has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 1 common feature.

No clinical trials have been registered for microcephaly 4, primary, autosomal recessive.

11 publications have been identified in PubMed for microcephaly 4, primary, autosomal recessive. Research spans Case Report / Case Series (45%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (18%).