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Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.
Features include always present findings: Cerebellar hypoplasia, Difficulty walking (gait disturbance), Hypermetropia, and Postaxial hand polydactyly and others; and sometimes findings: Talipes equinovarus. 16 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 6 | Absent speech, Difficulty walking (gait disturbance), Global developmental delay |
TCTN2 function has not been fully characterized.
Joubert syndrome 24 is caused by mutations in the TCTN2 gene on chromosome 12.
Genetic testing for TCTN2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 24 has been reported in the published literature.
Phenotype severity distribution: 13 always present features.
No clinical trials have been registered for Joubert syndrome 24.
16 publications have been identified in PubMed for Joubert syndrome 24. Research spans Review / Meta-Analysis (27%), Case Report / Case Series (27%), and Diagnostic / Biomarker (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 4 | 27% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:23 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 24
Arms and legs |
2 |
Postaxial hand polydactyly, Postaxial foot polydactyly |
Muscles | 1 | Low muscle tone (hypotonia) |
Eyes | 1 | Nystagmus |
Age of onset: at birth, adolescence.
4 |
27% |
Testing and diagnosis research | 2 | 13% |
Laboratory research | 2 | 13% |
New treatment approaches | 2 | 13% |
Disease patterns and progression | 1 | 7% |
Ju-Wang JD (2025). [PMID: 39817683](https://pubmed.ncbi.nlm.nih.gov/39817683/). *Therapeutic advances in respiratory disease*. [Review / Meta-Analysis]
Serpieri V (2025). [PMID: 40706604](https://pubmed.ncbi.nlm.nih.gov/40706604/). *The Lancet. Neurology*. [Review / Meta-Analysis]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Molecular genetics & genomic medicine*. [Gene Therapy / Novel Therapeutics]
Türk S (2025). [PMID: 42044428](https://pubmed.ncbi.nlm.nih.gov/42044428/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
D'Abrusco F (2025). [PMID: 39394465](https://pubmed.ncbi.nlm.nih.gov/39394465/). *European journal of human genetics : EJHG*. [Case Report / Case Series]
Peeters H (2025). [PMID: 40836900](https://pubmed.ncbi.nlm.nih.gov/40836900/). *FEBS letters*. [Case Report / Case Series]
Kulyamzin S (2025). [PMID: 40725402](https://pubmed.ncbi.nlm.nih.gov/40725402/). *Genes*. [Case Report / Case Series]
Campobasso G (2025). [PMID: 40565534](https://pubmed.ncbi.nlm.nih.gov/40565534/). *Genes*. [Review / Meta-Analysis]
Jones N (2025). [PMID: 41064626](https://pubmed.ncbi.nlm.nih.gov/41064626/). *Case reports in nephrology and dialysis*. [Epidemiology / Natural History]
Taşdemir Ü (2025). [PMID: 39275886](https://pubmed.ncbi.nlm.nih.gov/39275886/). *Journal of clinical ultrasound : JCU*. [Diagnostic / Biomarker]