Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include always present findings: Global developmental delay; and very common findings: Ataxia. 11 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Global developmental delay, Ataxia |
Muscles |
PIBF1 function has not been fully characterized.
Joubert syndrome 33 is associated with mutations in the PIBF1 gene on chromosome 13.
Genetic testing for PIBF1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 33 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 4 common features.
No clinical trials have been registered for Joubert syndrome 33.
11 publications have been identified in PubMed for Joubert syndrome 33. Research spans Case Report / Case Series (45%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 45% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:34 PM UTC
Online Mendelian Inheritance in Man
Common questions about Joubert syndrome 33
1
Low muscle tone (hypotonia) |
Eyes | 1 | Oculomotor apraxia |
Head and neck | 1 | Macrocephaly |
Lungs and breathing | 1 | Apnea |
Digestive system | 1 | Enlarged spleen (splenomegaly) |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
2 |
18% |
Research summaries | 1 | 9% |
Laboratory research | 1 | 9% |
Disease patterns and progression | 1 | 9% |
New treatment approaches | 1 | 9% |
Mański Ł (2026). [PMID: 41892648](https://pubmed.ncbi.nlm.nih.gov/41892648/). *Brain sciences*. [Case Report / Case Series]
Chen SC (2026). [PMID: 42083040](https://pubmed.ncbi.nlm.nih.gov/42083040/). *J Biomed Sci*. [Review / Meta-Analysis]
D'Abrusco F (2025). [PMID: 39394465](https://pubmed.ncbi.nlm.nih.gov/39394465/). *European journal of human genetics : EJHG*. [Diagnostic / Biomarker]
Buianova AA (2025). [PMID: 40189573](https://pubmed.ncbi.nlm.nih.gov/40189573/). *Neurological research and practice*. [Case Report / Case Series]
Chen L (2025). [PMID: 39925483](https://pubmed.ncbi.nlm.nih.gov/39925483/). *Pharmacogenomics and personalized medicine*. [Case Report / Case Series]
Aynekin B (2025). [PMID: 41230208](https://pubmed.ncbi.nlm.nih.gov/41230208/). *Molecular syndromology*. [Case Report / Case Series]
Bhate M (2025). [PMID: 40190368](https://pubmed.ncbi.nlm.nih.gov/40190368/). *Neuro-ophthalmology (Aeolus Press)*. [Case Report / Case Series]
Fujii T (2024). [PMID: 38751342](https://pubmed.ncbi.nlm.nih.gov/38751342/). *Human molecular genetics*. [Epidemiology / Natural History]
Juan Z (2024). [PMID: 39085968](https://pubmed.ncbi.nlm.nih.gov/39085968/). *European journal of medical research*. [Diagnostic / Biomarker]
Fang X (2024). [PMID: 39076169](https://pubmed.ncbi.nlm.nih.gov/39076169/). *Frontiers in genetics*. [Basic Science / Preclinical]