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Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.
Features include always present findings: Cleft palate, Hippocampal malrotation, Agenesis of corpus callosum, and Global developmental delay and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Cleft palate, Cleft upper lip |
VAX1 function has not been fully characterized.
Microphthalmia, syndromic 11 is associated with mutations in the VAX1 gene on chromosome 10.
Genetic testing for VAX1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 7 always present features.
No clinical trials have been registered for microphthalmia, syndromic 11.
14 publications have been identified in PubMed for microphthalmia, syndromic 11. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC
Online Mendelian Inheritance in Man
1 |
Global developmental delay |
5 |
36% |
Research summaries | 2 | 14% |
Disease patterns and progression | 2 | 14% |
Taguchi Y (2026). [PMID: 42321572](https://pubmed.ncbi.nlm.nih.gov/42321572/). *Doc Ophthalmol*. [Case Report / Case Series]
Koyanagi Y (2026). [PMID: 41942473](https://pubmed.ncbi.nlm.nih.gov/41942473/). *Hum Genome Var*. [Case Report / Case Series]
Rozumek GM (2026). [PMID: 41746734](https://pubmed.ncbi.nlm.nih.gov/41746734/). *JCI Insight*. [Basic Science / Preclinical]
Henker L (2026). [PMID: 42349624](https://pubmed.ncbi.nlm.nih.gov/42349624/). *Exp Eye Res*. [Basic Science / Preclinical]
Patterson KJK (2025). [PMID: 40598710](https://pubmed.ncbi.nlm.nih.gov/40598710/). *Am J Med Genet A*. [Review / Meta-Analysis]
Dawood M (2025). [PMID: 40820231](https://pubmed.ncbi.nlm.nih.gov/40820231/). *J Hum Genet*. [Basic Science / Preclinical]
Goyal S (2025). [PMID: 40491727](https://pubmed.ncbi.nlm.nih.gov/40491727/). *World J Clin Pediatr*. [Review / Meta-Analysis]
Huang H (2025). [PMID: 40655401](https://pubmed.ncbi.nlm.nih.gov/40655401/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Imdadoglu T (2025). [PMID: 40895008](https://pubmed.ncbi.nlm.nih.gov/40895008/). *Radiol Case Rep*. [Case Report / Case Series]
Tang R (2025). [PMID: 41645378](https://pubmed.ncbi.nlm.nih.gov/41645378/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]