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Trait

Transverse terminal limb defect

A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.

HPO HP:6000818

Summary

Also called
Transverse terminal limb reduction
Body system
Abnormality of limbs

1 gene linked to Transverse terminal limb defect

Changes in these genes cause rare conditions in which Transverse terminal limb defect 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
PORCNporcupine O-acyltransferaseSometimes (5–29%)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

Broader traits

Abnormality of limbs

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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