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Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.
Features include always present findings: Oligohydramnios, Occipital encephalocele, Polydactyly, and Polycystic kidney dysplasia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 1 | Polycystic kidney dysplasia |
TMEM231 function has not been fully characterized.
Meckel syndrome, type 11 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: 4 always present features.
No clinical trials have been registered for Meckel syndrome, type 11.
4 publications have been identified in PubMed for Meckel syndrome, type 11. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).
Liu Y (2026). [PMID: 41518077](https://pubmed.ncbi.nlm.nih.gov/41518077/). *Genesis*. [Gene Therapy / Novel Therapeutics]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Shi Q (2025). [PMID: 40432436](https://pubmed.ncbi.nlm.nih.gov/40432436/). *Physiol Res*. [Review / Meta-Analysis]
Orlova M (2024). [PMID: 39092430](https://pubmed.ncbi.nlm.nih.gov/39092430/). *Front Genet*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:30 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Meckel syndrome, type 11