Features include always present findings: Strabismus, Global developmental delay, Ptosis, and Mesoaxial hand polydactyly and others; and common findings: Molar tooth sign on MRI. 14 total HPO annotations.

FAM149B1 encodes family with sequence similarity 149 member B1 (582 aa). Involved in the localization of proteins to the cilium and cilium assembly. Highest expression in Testis (18.4 TPM) and Cells Cultured fibroblasts (17.3 TPM).

Joubert syndrome 36 is associated with mutations in the FAM149B1 gene on chromosome 10.

FAM149B1 is classified as a druggable target with score 0.0.

Genetic testing for FAM149B1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Joubert syndrome 36 has been reported in the published literature.

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

No clinical trials have been registered for Joubert syndrome 36.

4 publications have been identified in PubMed for Joubert syndrome 36. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

• Taudien JE (2025). [PMID: 40951761](https://pubmed.ncbi.nlm.nih.gov/40951761/). *Molecular therapy. Nucleic acids*. [Gene Therapy / Novel Therapeutics]

• Vrabič N (2024). [PMID: 39213781](https://pubmed.ncbi.nlm.nih.gov/39213781/). *Journal francais d'ophtalmologie*. [Review / Meta-Analysis]

• Elsayed MEA (2024). [PMID: 39027323](https://pubmed.ncbi.nlm.nih.gov/39027323/). *American journal of ophthalmology case reports*. [Case Report / Case Series]

• Juan Z (2024). [PMID: 39085968](https://pubmed.ncbi.nlm.nih.gov/39085968/). *European journal of medical research*. [Diagnostic / Biomarker]