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Traits

Traits linked to SRD5A2

steroid 5 alpha-reductase 2

The Human Phenotype Ontology links 13 traits to SRD5A2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

TraitHow often it is seen
Ambiguous external genitaliaVery often (80–99%)
Ambiguous genitalia in malesVery often (80–99%)
Cleft of scrotumVery often (80–99%)
Decreased fertilityVery often (80–99%)
Perineal hypospadiasVery often (80–99%)
Smaller than typical growth of scrotumVery often (80–99%)
Underdeveloped penisVery often (80–99%)
Undescended testesVery often (80–99%)
Urogenital sinus anomalyVery often (80–99%)
Short penisNot recorded

Abnormality of the endocrine system

TraitHow often it is seen
Abnormality of the endocrine systemVery often (80–99%)
Decreased circulating dihydrotestosterone concentrationNot recorded

Abnormality of the integument

TraitHow often it is seen
Abnormality of the hairNot recorded

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.

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to SRD5A2 and how often each is seen. Find out more at hpo.jax.org.

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