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Start free with EleplanSyndromic microphthalmia-anophthalmia-coloboma
ORPHA:202948Category
Also called Syndromic microphthalmia
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Classified as
- Category
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (Europe)Microphthalmia-anophthalmia-coloboma
- Age of onset
- Antenatal, NeonatalMicrophthalmia-anophthalmia-coloboma
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessiveMicrophthalmia-anophthalmia-coloboma
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Genes reported in subtypes
Orphanet records these genes on 15 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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