Traits

Traits linked to SRD5A3

steroid 5 alpha-reductase 3

The Human Phenotype Ontology links 62 traits to SRD5A3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Intellectual disability, severe	Always
Motor delay	Always
Abnormal shape of brain	Often (30–79%)
Abnormality of the cerebellum	Often (30–79%)
Ataxia	Often (30–79%)
Abnormal cerebellar vermis morphology	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Not recorded
More grooves in brain	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Involuntary, rapid, rhythmic eye movements	Always
Notched pupil	Always
Visual loss	Always
Optic atrophy	Very often (80–99%)
Cat eye	Often (30–79%)
Optic disc hypoplasia	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Rod-cone dystrophy	Sometimes (5–29%)
Wide-set eyes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Always
Full lips	Always
Wide nasal bridge	Always
Abnormal facial shape	Often (30–79%)
Facial hemangioma	Often (30–79%)
Broad head shape	Not recorded
Depressed nasal bridge	Not recorded
Failure of development of more than six teeth	Not recorded

Abnormality of the integument

Trait	How often it is seen
Dry skin	Often (30–79%)
Ichthyosis	Often (30–79%)
Spotty increased pigmentation	Sometimes (5–29%)
Abnormal skin pigmentation	Not recorded
Abnormality of the hair	Not recorded
Excessive hair growth	Not recorded
Hanging skin	Not recorded
Hyperkeratosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Elbow contracture	Always
Low muscle tone	Always
Thoracic kyphosis	Always
Decreased muscle tone in infant	Often (30–79%)
Abnormal sacrum morphology	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Reduced antithrombin III activity	Always
Microcytic anemia	Often (30–79%)
Abnormality of coagulation	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Inability to straighten knee	Always
Thickening of palms and soles	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Not recorded
Low-set ears	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Faltering weight	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High liver enzymes	Always
Type I transferrin isoform profile	Very often (80–99%)

Abnormality of the breast

Trait	How often it is seen
Inverted nipples	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Eczema	Often (30–79%)

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 SRD5A3 and how often each is seen. Find out more at hpo.jax.org.

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