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Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.
Features include always present findings: Absent speech, Inability to walk, Global developmental delay, and Difficulty breathing (respiratory insufficiency) and others; and common findings: 4-5 toe syndactyly, Postaxial polydactyly, Aggressive behavior, and Renal cyst and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Absent speech, Inability to walk, Global developmental delay |
TMEM231 function has not been fully characterized.
Joubert syndrome 20 is associated with mutations in the TMEM231 gene on chromosome 16.
Genetic testing for TMEM231 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features, 6 common features.
No clinical trials have been registered for Joubert syndrome 20.
13 publications have been identified in PubMed for Joubert syndrome 20. Research spans Case Report / Case Series (69%), Review / Meta-Analysis (15%), and Epidemiology / Natural History (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 69% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 20
Eyes |
2 |
Oculomotor apraxia, Damage to the retina (retinopathy) |
Arms and legs | 1 | 4-5 toe syndactyly |
Lungs and breathing | 1 | Difficulty breathing (respiratory insufficiency) |
Kidneys and urinary system | 1 | Renal cyst |
2 |
15% |
Disease patterns and progression | 1 | 8% |
New treatment approaches | 1 | 8% |
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Progress in retinal and eye research*. [Review / Meta-Analysis]
Acosta-Paguada LF (2025). [PMID: 40898267](https://pubmed.ncbi.nlm.nih.gov/40898267/). *Journal of medical case reports*. [Case Report / Case Series]
Taşdemir Ü (2025). [PMID: 39275886](https://pubmed.ncbi.nlm.nih.gov/39275886/). *Journal of clinical ultrasound : JCU*. [Epidemiology / Natural History]
Mehari TH (2025). [PMID: 40677886](https://pubmed.ncbi.nlm.nih.gov/40677886/). *Radiology case reports*. [Case Report / Case Series]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Molecular genetics & genomic medicine*. [Gene Therapy / Novel Therapeutics]
Haddar L (2025). [PMID: 39687839](https://pubmed.ncbi.nlm.nih.gov/39687839/). *Radiology case reports*. [Case Report / Case Series]
Yen VTH (2025). [PMID: 40255219](https://pubmed.ncbi.nlm.nih.gov/40255219/). *Radiology case reports*. [Case Report / Case Series]
Demirtas İ (2025). [PMID: 41316455](https://pubmed.ncbi.nlm.nih.gov/41316455/). *Journal of medical case reports*. [Case Report / Case Series]
Carpenter EH (2025). [PMID: 40621737](https://pubmed.ncbi.nlm.nih.gov/40621737/). *Journal of cell science*. [Case Report / Case Series]
Murashima R (2024). [PMID: 38916285](https://pubmed.ncbi.nlm.nih.gov/38916285/). *Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine*. [Case Report / Case Series]