Traits

Traits linked to DHRSX

dehydrogenase/reductase X-linked

The Human Phenotype Ontology links 29 traits to DHRSX, by body system: features seen in people with one of the gene's rare conditions.

DHRSX

Abnormality of the digestive system

Trait	How often it is seen
Gastrostomy tube feeding in infancy	Always
Acid reflux	Often (30–79%)
Enlarged liver	Often (30–79%)
Obstipation	Often (30–79%)
Slowed or blocked flow of bile from liver	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
IQ less than 20	Always
Severe global developmental delay	Always
Epilepsy	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Obstructive sleep apnea	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always
Aplasia of the vestibular nerve	Often (30–79%)
Cochlear nerve aplasia	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Scoliosis	Often (30–79%)
Elbow contracture	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Often (30–79%)
Noisy breathing	Often (30–79%)
Respiratory function loss	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Sometimes (5–29%)
Ichthyosis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Always

Abnormality of limbs

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

Abnormality of the eye

Trait	How often it is seen
Damage to outer layer of the cornea of the eye	Always

Abnormality of the immune system

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

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

Laboratory abnormality

Trait	How often it is seen
Type I transferrin isoform profile	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 DHRSX and how often each is seen. Find out more at hpo.jax.org.

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