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Trait

Epicanthus inversus

A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.

HPO HP:0000537

Summary

Body system
Abnormality of head or neck

14 condition reports read genes linked to this trait

Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.

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16 genes linked to Epicanthus inversus

Changes in these genes cause rare conditions in which Epicanthus inversus is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
FOXL2forkhead box L2AlwaysIn 2 conditions
LRRC7leucine rich repeat containing 7AlwaysIn 1 condition
MKS1MKS transition zone complex subunit 1AlwaysIn 1 condition
PAX3paired box 3AlwaysIn 1 condition
PEX6peroxisomal biogenesis factor 6AlwaysIn 1 condition
COLEC10collectin subfamily member 10Very often (80–99%)In 2 conditions
COLEC11collectin subfamily member 11Very often (80–99%)In 2 conditions
MASP1MBL associated serine protease 1Very often (80–99%)In 2 conditions
SIX2SIX homeobox 2Very often (80–99%)In 1 condition
EBF3EBF transcription factor 3Often (30–79%)In 1 condition
CDC42BPBCDC42 binding protein kinase betaSometimes (5–29%)In 1 condition
CSNK2A1casein kinase 2 alpha 1Sometimes (5–29%)In 1 condition
DDB1damage specific DNA binding protein 1Sometimes (5–29%)In 1 condition
PPP1R12Aprotein phosphatase 1 regulatory subunit 12ASometimes (5–29%)In 1 condition
HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1Not recordedIn 1 condition
KAT6Blysine acetyltransferase 6BNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Eye folds

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.19-9814e911.

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