Trait

Lop ear

Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.

HPO HP:0000394

Body system: Abnormality of the ear

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9 genes linked to Lop ear

Changes in these genes cause rare conditions in which Lop ear 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.

Gene	How often it is seen	Conditions
CCNQcyclin Q	Very often (80–99%)	In 2 conditions
EYA1EYA transcriptional coactivator and phosphatase 1	Often (30–79%)	In 1 condition
IGBP1immunoglobulin binding protein 1	Often (30–79%)	In 1 condition
SIX1SIX homeobox 1	Often (30–79%)	In 1 condition
SIX5SIX homeobox 5	Often (30–79%)	In 1 condition
SALL1spalt like transcription factor 1	Sometimes (5–29%)	In 1 condition
C12orf57chromosome 12 open reading frame 57	Not recorded	In 1 condition
CHD7chromodomain helicase DNA binding protein 7	Not recorded	In 1 condition
COL5A1collagen type V alpha 1 chain	Not recorded	In 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

Abnormally shaped ears

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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