Trait
Abnormal helix morphology
An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.
Summary
- Also called
- Abnormal helices, Abnormality of the helix, Helix abnormal
- Body system
- Abnormality of the ear
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Abnormal helix morphology, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test26 genes linked to Abnormal helix morphology
Changes in these genes cause rare conditions in which Abnormal helix morphology 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 |
|---|---|---|
| MAP2K2mitogen-activated protein kinase kinase 2 | Very often (80–99%) | In 1 condition |
| NF1neurofibromin 1 | Very often (80–99%) | In 1 condition |
| TCF4transcription factor 4 | Very often (80–99%) | In 1 condition |
| ABCA12ATP binding cassette subfamily A member 12 | Often (30–79%) | In 1 condition |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Often (30–79%) | In 1 condition |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Often (30–79%) | In 1 condition |
| ASPRV1aspartic peptidase retroviral like 1 | Often (30–79%) | In 1 condition |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Often (30–79%) | In 1 condition |
| GPC3glypican 3 | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| LIPNlipase family member N | Often (30–79%) | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Often (30–79%) | In 1 condition |
| NIPAL4NIPA like domain containing 4 | Often (30–79%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Often (30–79%) | In 1 condition |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Often (30–79%) | In 1 condition |
| SETBP1SET binding protein 1 | Often (30–79%) | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Often (30–79%) | In 1 condition |
| SULT2B1sulfotransferase family 2B member 1 | Often (30–79%) | In 1 condition |
| TGM1transglutaminase 1 | Often (30–79%) | In 1 condition |
| DSPdesmoplakin | Sometimes (5–29%) | In 1 condition |
| JUPjunction plakoglobin | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sometimes (5–29%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | 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.
Narrower traits
- Thickened helices55 genes
- Indentation in back of outer ear7 genes
- Prominent ear helix7 genes
- Hypoplastic helices6 genes
- Darwin tubercle of helix4 genes
- Thin ear helix4 genes
- Abnormality of the crus of the helix3 genes
- Cleft helix3 genes
- Abnormally folded helix2 genes
- Abnormal incisura morphology1 gene
- Ear hair1 gene
- Squared superior portion of helix1 gene
Broader traits
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks