Traits

Traits linked to SDR9C7

short chain dehydrogenase/reductase family 9C member 7

The Human Phenotype Ontology links 50 traits to SDR9C7, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Hypergranulosis	Always
Cracked skin	Very often (80–99%)
Decreased ability to sweat	Very often (80–99%)
Dry skin	Very often (80–99%)
Eyebrow scaling skin	Very often (80–99%)
Generalized scaling	Very often (80–99%)
Hyperkeratosis	Very often (80–99%)
Ichthyosis	Very often (80–99%)
Itching	Very often (80–99%)
Poor nail formation	Very often (80–99%)
Stiff skin	Very often (80–99%)
Tight skin	Very often (80–99%)
Abnormality of the nail	Often (30–79%)
Hair loss	Often (30–79%)
Sparse hair	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Everted eyelid	Very often (80–99%)
Cicatricial ectropion	Often (30–79%)
Eyelids stay open	Often (30–79%)
Hair loss on scalp from scarring condition	Often (30–79%)
Outward turned lips	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Chronic irritative conjunctivitis	Sometimes (5–29%)
Euryblepharon	Sometimes (5–29%)
Inflammation of eyelids	Sometimes (5–29%)
Loss of eyelashes	Sometimes (5–29%)
Punctal stenosis	Sometimes (5–29%)
Eyelid folded in	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Corneal inflammation	Often (30–79%)
Damage to outer layer of the cornea of the eye	Often (30–79%)
Corneal ulceration	Sometimes (5–29%)
Bulging cornea	Rarely (1–4%)
Clouding of the lens of the eye	Rarely (1–4%)
Corneal perforation	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Recurrent infections	Sometimes (5–29%)
Infection in blood stream	Rarely (1–4%)
Unusual fungal nail infection	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormal helix morphology	Often (30–79%)
Hearing impairment	Often (30–79%)
Conductive deafness	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Very often (80–99%)
Thickening of the outer layer of the skin of the palms and soles	Not recorded

Constitutional symptom

Trait	How often it is seen
Diminished health-related quality of life	Very often (80–99%)
Pain	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Heat intolerance	Very often (80–99%)
Dehydration	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Amniotic constriction ring	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Limb contractures	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 SDR9C7 and how often each is seen. Find out more at hpo.jax.org.

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