microphthalmia, syndromic 11
Findings
No curated finding names microphthalmia, syndromic 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013734), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Agenesis of pineal glandHPOHP:0012687
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Cleft upper lipHPOHP:0000204
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hippocampal malrotationHPOHP:0034396
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- VAX1HGNC:12660
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · G2P · Autosomal recessive · 2017
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: microphthalmia, syndromic 11
- Also called
- microphthalmia, syndromic type 11syndromic microphthalmia caused by mutation in VAX1VAX1 syndromic microphthalmia