Features include always present findings: Hypoplasia of the corpus callosum, Postaxial hand polydactyly, Generalized hypotonia, and Oculomotor apraxia and others; and common findings: Undetectable electroretinogram, Renal hypoplasia, 2-3 toe syndactyly, and Microphthalmia and others. 17 total HPO annotations.

PDE6D function has not been fully characterized.

Joubert syndrome 22 is associated with mutations in the PDE6D gene on chromosome 2.

Genetic testing for PDE6D is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Joubert syndrome 22 has been reported in the published literature.

Phenotype severity distribution: 8 always present features, 5 common features.

No clinical trials have been registered for Joubert syndrome 22.

9 publications have been identified in PubMed for Joubert syndrome 22. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (38%), and Diagnostic / Biomarker (13%).

Recent Publications

• Mański Ł (2026). [PMID: 42073030](https://pubmed.ncbi.nlm.nih.gov/42073030/). *Children (Basel)*. [Case Report / Case Series]

• Peeters H (2025). [PMID: 40836900](https://pubmed.ncbi.nlm.nih.gov/40836900/). *FEBS letters*. [Basic Science / Preclinical]

• Mahajan D (2025). [PMID: 40707593](https://pubmed.ncbi.nlm.nih.gov/40707593/). *Scientific reports*. [Basic Science / Preclinical]

• Buianova AA (2025). [PMID: 40189573](https://pubmed.ncbi.nlm.nih.gov/40189573/). *Neurological research and practice*. [Case Report / Case Series]

• Curinha A (2025). [PMID: 40009365](https://pubmed.ncbi.nlm.nih.gov/40009365/). *The Journal of cell biology*. [Basic Science / Preclinical]