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Trait

Proboscis

A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.

HPO HP:0012806

Summary

Body system
Abnormality of head or neck

9 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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21 genes linked to Proboscis

Changes in these genes cause rare conditions in which Proboscis 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
KDM6Alysine demethylase 6AOften (30–79%)In 1 condition
KMT2Dlysine methyltransferase 2DOften (30–79%)In 1 condition
PLCH1phospholipase C eta 1Often (30–79%)In 2 conditions
CDONcell adhesion associated, oncogene regulatedSometimes (5–29%)In 4 conditions
CRIPTOcripto, EGF-CFC family memberSometimes (5–29%)In 4 conditions
DISP1dispatched RND transporter family member 1Sometimes (5–29%)In 4 conditions
DLL1delta like canonical Notch ligand 1Sometimes (5–29%)In 4 conditions
FGF8fibroblast growth factor 8Sometimes (5–29%)In 4 conditions
FGFR1fibroblast growth factor receptor 1Sometimes (5–29%)In 2 conditions
FOXH1forkhead box H1Sometimes (5–29%)In 4 conditions
GAS1growth arrest specific 1Sometimes (5–29%)In 4 conditions
GLI2GLI family zinc finger 2Sometimes (5–29%)In 4 conditions
NODALnodal growth differentiation factorSometimes (5–29%)In 4 conditions
PTCH1patched 1Sometimes (5–29%)In 4 conditions
SHHsonic hedgehog signaling moleculeSometimes (5–29%)In 5 conditions
SIX3SIX homeobox 3Sometimes (5–29%)In 5 conditions
SMC1Astructural maintenance of chromosomes 1ASometimes (5–29%)In 1 condition
STAG2STAG2 cohesin complex componentSometimes (5–29%)In 2 conditions
STILSTIL centriolar assembly proteinSometimes (5–29%)In 4 conditions
TGIF1TGFB induced factor homeobox 1Sometimes (5–29%)In 4 conditions
ZIC2Zic family zinc finger 2Sometimes (5–29%)In 4 conditions

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

Abnormal of nasal shape

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 2026.10.18-8b139e39.

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