microphthalmia, isolated, with coloboma
MONDO:0000170Mondo
Findings
No curated finding names microphthalmia, isolated, with coloboma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
Definition from the Mondo Disease Ontology (MONDO:0000170), read 2026-09-29. CC BY 4.0.
Genes
8 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.
- RBP4HGNC:9922
- Strong · G2P · Autosomal dominant · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- ABCB6HGNC:47
- Supportive · Orphanet · Autosomal dominant · 2021
- GDF3HGNC:4218
- Supportive · Orphanet · Autosomal dominant · 2021
- PORCNHGNC:17652
- Supportive · Orphanet · Autosomal dominant · 2021
- STRA6HGNC:30650
- Supportive · Orphanet · Autosomal dominant · 2021
- TENM3HGNC:29944
- Supportive · Orphanet · Autosomal dominant · 2021
- VSX2HGNC:1975
- Supportive · Orphanet · Autosomal dominant · 2021
- KIF17HGNC:19167
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (12)
- microphthalmia with coloboma 1
- microphthalmia with coloboma 2
- microphthalmia, isolated, with coloboma 10
- microphthalmia, isolated, with coloboma 3
- microphthalmia, isolated, with coloboma 4
- microphthalmia, isolated, with coloboma 5
- microphthalmia, isolated, with coloboma 6
- microphthalmia, isolated, with coloboma 7
- microphthalmia, isolated, with coloboma 8
- microphthalmia, isolated, with coloboma 9
- microphthalmia/coloboma 11
- microphthalmia/coloboma 13
Other names
4 names
Resolves to: microphthalmia, isolated, with coloboma
- Also called
- colobomatous microphthalmiaMACmicrophthalmia with colobomatous cystmicrophthalmia-anophthalmia-coloboma syndrome