Trait

Camptocormia

An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.

HPO HP:0100595

Body system: Abnormality of the musculoskeletal system

This page as data

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library(jsonlite)

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page <- fromJSON(url)
page$trait$name

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12 genes linked to Camptocormia

Changes in these genes cause rare conditions in which Camptocormia 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
RAB32RAB32, member RAS oncogene family	Always	In 1 condition
SLC30A9solute carrier family 30 member 9	Very often (80–99%)	In 1 condition
ADCY5adenylate cyclase 5	Often (30–79%)	In 1 condition
DNMT3BDNA methyltransferase 3 beta	Often (30–79%)	In 1 condition
DUX4double homeobox 4	Often (30–79%)	In 1 condition
DUX4L1double homeobox 4 like 1 (pseudogene)	Often (30–79%)	In 1 condition
FRG1FSHD region gene 1	Often (30–79%)	In 1 condition
HSPB8heat shock protein family B (small) member 8	Often (30–79%)	In 1 condition
SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1	Often (30–79%)	In 1 condition
COQ2coenzyme Q2, polyprenyltransferase	Sometimes (5–29%)	In 2 conditions
PHKA1phosphorylase kinase regulatory subunit alpha 1	Sometimes (5–29%)	In 1 condition
PHKG1phosphorylase kinase catalytic subunit gamma 1	Sometimes (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.

Broader traits

Abnormal curve of the backbone

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 2026.10.17-8666dff2.

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