Trait

Equinovarus deformity

Body system: Abnormality of limbs

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

library(jsonlite)

url <- "https://dantelabs.com/traits/equinovarus-deformity.json"
page <- fromJSON(url)
page$trait$name

Open the JSON

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16 genes linked to Equinovarus deformity

Changes in these genes cause rare conditions in which Equinovarus deformity 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
COPZ1coat protein complex I subunit zeta 1	Always	In 1 condition
ERCC6ERCC excision repair 6, chromatin remodeling factor	Always	In 1 condition
LMX1BLIM homeobox transcription factor 1 beta	Often (30–79%)	In 1 condition
SLC26A2solute carrier family 26 member 2	Often (30–79%)	In 1 condition
COL25A1collagen type XXV alpha 1 chain	Sometimes (5–29%)	In 1 condition
ERGIC1endoplasmic reticulum-golgi intermediate compartment 1	Sometimes (5–29%)	In 1 condition
FARS2phenylalanyl-tRNA synthetase 2, mitochondrial	Sometimes (5–29%)	In 1 condition
HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Sometimes (5–29%)	In 1 condition
HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	Sometimes (5–29%)	In 1 condition
KCNK3potassium two pore domain channel subfamily K member 3	Sometimes (5–29%)	In 1 condition
PMP22peripheral myelin protein 22	Sometimes (5–29%)	In 1 condition
RBMXRNA binding motif protein X-linked	Sometimes (5–29%)	In 1 condition
SCYL2SCY1 like pseudokinase 2	Sometimes (5–29%)	In 1 condition
VPS13Avacuolar protein sorting 13 homolog A	Sometimes (5–29%)	In 1 condition
ATP6V1B2ATPase H+ transporting V1 subunit B2	Rarely (1–4%)	In 1 condition
TBC1D24TBC1 domain family member 24	Rarely (1–4%)	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

Hindfoot deformity

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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