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Trait

Abnormally folded helix

Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.

HPO HP:0008544

Summary

Body system
Abnormality of the ear

2 genes linked to Abnormally folded helix

Changes in these genes cause rare conditions in which Abnormally folded helix 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
FBN2fibrillin 2Very often (80–99%)In 1 condition
MED12mediator complex subunit 12Not 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.

Narrower traits

Broader traits

Abnormal helix morphology

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 2026.10.16-c6eea6bf.

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