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Trait

Abnormal sex determination

Anomaly of primary or secondary sexual development or characteristics.

HPO HP:0012244

Summary

Body system
Abnormality of the genitourinary system

14 genes linked to Abnormal sex determination

Changes in these genes cause rare conditions in which Abnormal sex determination 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
CYP11A1cytochrome P450 family 11 subfamily A member 1Very often (80–99%)In 2 conditions
DHX37DEAH-box helicase 37Very often (80–99%)In 1 condition
GATA4GATA binding protein 4Very often (80–99%)In 1 condition
MAP3K1mitogen-activated protein kinase kinase kinase 1Very often (80–99%)In 1 condition
NR0B1nuclear receptor subfamily 0 group B member 1Very often (80–99%)In 1 condition
NR5A1nuclear receptor subfamily 5 group A member 1Very often (80–99%)In 1 condition
SOX9SRY-box transcription factor 9Very often (80–99%)In 1 condition
SRYsex determining region YVery often (80–99%)In 1 condition
VAMP7vesicle associated membrane protein 7Very often (80–99%)In 1 condition
WT1WT1 transcription factorVery often (80–99%)In 1 condition
WWOXWW domain containing oxidoreductaseVery often (80–99%)In 1 condition
ZFPM2zinc finger protein, FOG family member 2Very often (80–99%)In 1 condition
CYB5Acytochrome b5 type ASometimes (5–29%)In 1 condition
CYP17A1cytochrome P450 family 17 subfamily A member 1Sometimes (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

Abnormal reproductive system morphology

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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