Features include always present findings: Cerebellar vermis hypoplasia, Strabismus, Liver scarring (fibrosis) (hepatic fibrosis), and Agenesis of corpus callosum and others.

CC2D2A encodes coiled-coil and C2 domain containing 2A (1,620 aa). Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Highest expression in Artery Tibial (16.4 TPM) and Colon Sigmoid (15.6 TPM).

COACH syndrome 2 is associated with mutations in the CC2D2A gene on chromosome 4.

The CC2D2A protein participates in Anchoring of the basal body to the plasma membrane pathway.

CC2D2A is classified as a druggable target with score 0.0.

Genetic testing for CC2D2A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 18 always present features.