Features include always present findings: Global developmental delay, Molar tooth sign on MRI, and Intellectual disability; and common findings: Nystagmus, Oculomotor apraxia, Enlarged brain ventricles (ventriculomegaly), and Episodic tachypnea and others. 17 total HPO annotations.

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).

Joubert syndrome 9 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.

Biomarker and diagnostic research for Joubert syndrome 9 has been reported in the published literature.

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

No clinical trials have been registered for Joubert syndrome 9.

11 publications have been identified in PubMed for Joubert syndrome 9. Research spans Case Report / Case Series (55%), Basic Science / Preclinical (36%), and Diagnostic / Biomarker (9%).