isolated anophthalmia-microphthalmia syndrome
MONDO:0016764Mondo
Findings
No curated finding names isolated anophthalmia-microphthalmia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.
Definition from the Mondo Disease Ontology (MONDO:0016764), read 2026-09-29. CC BY 4.0.
Genes
2 genes
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.
Where it sits
- A kind of
Other names
3 names
Resolves to: isolated anophthalmia-microphthalmia syndrome
- Also called
- MAC spectrummicrophthalmia-anophthalmia-coloboma spectrumnonsyndromic anophthalmia-microphthalmia syndrome