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Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.
Features include always present findings: Keratoconus, Ectopia pupillae, Clouding of the cornea (corneal dystrophy), and Reduced visual acuity; and common findings: Inguinal hernia. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Keratoconus, Clouding of the cornea (corneal dystrophy), Corneal guttata |
ZEB1 function has not been fully characterized.
Posterior polymorphous corneal dystrophy 3 is associated with mutations in the ZEB1 gene on chromosome 10.
Genetic testing for ZEB1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 1 common feature.
No clinical trials have been registered for posterior polymorphous corneal dystrophy 3.
2 publications have been identified in PubMed for posterior polymorphous corneal dystrophy 3. Research spans Case Report / Case Series (100%).
Lin Q (2025). [PMID: 40547359](https://pubmed.ncbi.nlm.nih.gov/40547359/). *Front Genet*. [Case Report / Case Series]
Koval T (2025). [PMID: 39879122](https://pubmed.ncbi.nlm.nih.gov/39879122/). *Cornea*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:00 PM UTC
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