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Features include always present findings: Global developmental delay, Low muscle tone (hypotonia), and Molar tooth sign on MRI; and common findings: Truncal ataxia. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Strabismus, Nystagmus, Oculomotor apraxia |
CEP120 encodes centrosomal protein 120 (986 aa). Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Highest expression in Ovary (23.9 TPM) and Brain Cerebellar Hemisphere (20.8 TPM).
Joubert syndrome 31 is associated with mutations in the CEP120 gene on chromosome 5.
CEP120 is classified as a druggable target with score 0.0.
Genetic testing for CEP120 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 31 has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 1 common feature.
No clinical trials have been registered for Joubert syndrome 31.
11 publications have been identified in PubMed for Joubert syndrome 31. Research spans Case Report / Case Series (36%), Diagnostic / Biomarker (27%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:07 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 31
3 |
Truncal ataxia, Global developmental delay, Enlarged brain ventricles (ventriculomegaly) |
Muscles | 1 | Low muscle tone (hypotonia) |
3 |
27% |
Laboratory research | 2 | 18% |
Research summaries | 1 | 9% |
Disease patterns and progression | 1 | 9% |
Ren S (2026). [PMID: 41929917](https://pubmed.ncbi.nlm.nih.gov/41929917/). *Frontiers in pediatrics*. [Case Report / Case Series]
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]
Hou H (2025). [PMID: 40593860](https://pubmed.ncbi.nlm.nih.gov/40593860/). *NPJ genomic medicine*. [Diagnostic / Biomarker]
Taşdemir Ü (2025). [PMID: 39275886](https://pubmed.ncbi.nlm.nih.gov/39275886/). *Journal of clinical ultrasound : JCU*. [Case Report / Case Series]
Türk S (2025). [PMID: 42044428](https://pubmed.ncbi.nlm.nih.gov/42044428/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Ju-Wang JD (2025). [PMID: 39817683](https://pubmed.ncbi.nlm.nih.gov/39817683/). *Therapeutic advances in respiratory disease*. [Review / Meta-Analysis]
Singh S (2024). [PMID: 38702430](https://pubmed.ncbi.nlm.nih.gov/38702430/). *European journal of human genetics : EJHG*. [Case Report / Case Series]
De Mori R (2024). [PMID: 38502237](https://pubmed.ncbi.nlm.nih.gov/38502237/). *Cell and tissue research*. [Basic Science / Preclinical]
Juan Z (2024). [PMID: 39085968](https://pubmed.ncbi.nlm.nih.gov/39085968/). *European journal of medical research*. [Diagnostic / Biomarker]