Features include always present findings: Low muscle tone (hypotonia), Intellectual disability, and Global developmental delay; and very common findings: Aganglionic megacolon. 41 total HPO annotations.

KIFBP encodes kinesin family binding protein (621 aa). Activator of KIF1B plus-end-directed microtubule motor activity. Highest expression in Brain Cerebellar Hemisphere (35.8 TPM) and Brain Cerebellum (29.3 TPM).

Goldberg-Shprintzen syndrome is caused by mutations in the KIFBP gene on chromosome 10.

KIFBP is classified as a druggable target with score 0.0.

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

Phenotype severity distribution: 3 always present features, 1 very common feature, 5 common features.

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

No clinical trials have been registered for Goldberg-Shprintzen syndrome.

1 publication has been identified in PubMed for Goldberg-Shprintzen syndrome. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Tan Z (2026). [PMID: 41604282](https://pubmed.ncbi.nlm.nih.gov/41604282/). *The Biochemical journal*. [Basic Science / Preclinical]