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Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.
Features include very common findings: Nystagmus and Renal cyst; and common findings: Strabismus, Encephalocele, Hydrocephalus, and Molar tooth sign on MRI and others. 43 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Hypoplasia of the brainstem, Ataxia, Severe intellectual disability |
TMEM237 function has not been fully characterized.
Joubert syndrome 14 is caused by mutations in the TMEM237 gene on chromosome 2.
Genetic testing for TMEM237 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Joubert syndrome 14 has been reported in the published literature.
Phenotype severity distribution: 2 very common features, 5 common features.
No clinical trials have been registered for Joubert syndrome 14.
17 publications have been identified in PubMed for Joubert syndrome 14. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (18%), and Diagnostic / Biomarker (12%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 53% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 14
Eyes
5 |
Strabismus, Nystagmus, Cerebral visual impairment |
Muscles | 3 | Low muscle tone (hypotonia), Generalized hypotonia, Damage to the optic nerve (optic atrophy) |
Heart and blood vessels | 3 | Ventricular septal defect, Intracranial hemorrhage, Hypertension |
Head and neck | 2 | Tented upper lip vermilion, Cleft palate |
Kidneys and urinary system | 1 | Renal cyst |
Growth and development | 1 | Growth delay |
3 |
18% |
Testing and diagnosis research | 2 | 12% |
Disease patterns and progression | 2 | 12% |
Research summaries | 1 | 6% |
Alafghani R (2026). [PMID: 41965849](https://pubmed.ncbi.nlm.nih.gov/41965849/). *Hum Genomics*. [Epidemiology / Natural History]
Dababseh BH (2026). [PMID: 41550404](https://pubmed.ncbi.nlm.nih.gov/41550404/). *Clinical case reports*. [Basic Science / Preclinical]
Khan AO (2026). [PMID: 41812909](https://pubmed.ncbi.nlm.nih.gov/41812909/). *Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus*. [Case Report / Case Series]
Ren S (2026). [PMID: 41929917](https://pubmed.ncbi.nlm.nih.gov/41929917/). *Front Pediatr*. [Case Report / Case Series]
Buianova AA (2025). [PMID: 40189573](https://pubmed.ncbi.nlm.nih.gov/40189573/). *Neurological research and practice*. [Case Report / Case Series]
Bhate M (2025). [PMID: 40190368](https://pubmed.ncbi.nlm.nih.gov/40190368/). *Neuro-ophthalmology (Aeolus Press)*. [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]
Kiraz A (2025). [PMID: 40448720](https://pubmed.ncbi.nlm.nih.gov/40448720/). *Neurogenetics*. [Case Report / Case Series]
Türk S (2025). [PMID: 42044428](https://pubmed.ncbi.nlm.nih.gov/42044428/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Patel MM (2025). [PMID: 40211043](https://pubmed.ncbi.nlm.nih.gov/40211043/). *EMBO molecular medicine*. [Basic Science / Preclinical]