syndromic microphthalmia
MONDO:0016073Mondo
Findings
No curated finding names syndromic microphthalmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A microphthalmia that is part of a larger syndrome.
Definition from the Mondo Disease Ontology (MONDO:0016073), 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
- Narrower terms (19)
- anophthalmia/microphthalmia-esophageal atresia syndrome
- Behrens Baumann dust syndrome
- COFS syndrome
- colobomatous microphthalmia-rhizomelic dysplasia syndrome
- linear skin defects with multiple congenital anomalies
- microphthalmia microtia fetal akinesia
- microphthalmia with brain and digit anomalies
- microphthalmia-brain atrophy syndrome
- microphthalmia, Lenz type
- microphthalmia, syndromic 1
- microphthalmia, syndromic 11
- microphthalmia, syndromic 12
- microphthalmia, syndromic 2
- microphthalmia, syndromic 9
- MMEP syndrome
- oculoauricular syndrome
- RAB18 deficiency
- syndromic microphthalmia type 5
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Other names
2 names
Resolves to: syndromic microphthalmia
- Also called
- microphthalmia, syndromicsyndrome associated with microphthalmia