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Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.
Features include always present findings: Global developmental delay, Ataxia, Generalized hypotonia, and Nystagmus and others; and common findings: Highly arched eyebrow, Strabismus, Delayed speech and language development, and Wide nasal bridge and others. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 6 | Delayed speech and language development, Lower limb hyperreflexia, Dysarthria |
MKS1 encodes MKS transition zone complex subunit 1 (559 aa). Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Highest expression in Testis (24.3 TPM) and Ovary (22.3 TPM).
Joubert syndrome 28 is associated with mutations in the MKS1 gene on chromosome 17.
MKS1 is classified as a druggable target with score 0.0.
Genetic testing for MKS1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features, 10 common features.
No clinical trials have been registered for Joubert syndrome 28.
19 publications have been identified in PubMed for Joubert syndrome 28. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (32%), and Epidemiology / Natural History (21%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 37% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:18 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Joubert syndrome 28
Eyes | 5 | Strabismus, Pigmentary retinopathy, Nystagmus |
Bones and joints | 1 | Joint hypermobility |
Arms and legs | 1 | Lower limb hyperreflexia |
Muscles | 1 | Generalized hypotonia |
6 |
32% |
Disease patterns and progression | 4 | 21% |
Research summaries | 1 | 5% |
New treatment approaches | 1 | 5% |
He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *J Clin Invest*. [Basic Science / Preclinical]
Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]
Bhate M (2025). [PMID: 40190368](https://pubmed.ncbi.nlm.nih.gov/40190368/). *Neuro-ophthalmology (Aeolus Press)*. [Epidemiology / Natural History]
Betz C (2025). [PMID: 40170356](https://pubmed.ncbi.nlm.nih.gov/40170356/). *HGG advances*. [Case Report / Case Series]
Taudien JE (2025). [PMID: 39898050](https://pubmed.ncbi.nlm.nih.gov/39898050/). *iScience*. [Basic Science / Preclinical]
Scortegagna F (2025). [PMID: 39240439](https://pubmed.ncbi.nlm.nih.gov/39240439/). *Acta neurologica Belgica*. [Case Report / Case Series]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Türk S (2025). [PMID: 42044428](https://pubmed.ncbi.nlm.nih.gov/42044428/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Pardo LM (2025). [PMID: 41054827](https://pubmed.ncbi.nlm.nih.gov/41054827/). *Clin Genet*. [Case Report / Case Series]
Taudien JE (2025). [PMID: 40951761](https://pubmed.ncbi.nlm.nih.gov/40951761/). *Molecular therapy. Nucleic acids*. [Gene Therapy / Novel Therapeutics]