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Trait

C1-C2 vertebral abnormality

Any abnormality of the atlas and the axis.

HPO HP:0008440

Summary

Body system
Abnormality of the musculoskeletal system

3 genes linked to C1-C2 vertebral abnormality

Changes in these genes cause rare conditions in which C1-C2 vertebral abnormality 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
COL2A1collagen type II alpha 1 chainRarely (1–4%)In 1 condition
FN1fibronectin 1Rarely (1–4%)In 1 condition
SKISKI proto-oncogeneNot 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 cervical spine

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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