Traits

Traits linked to SOX18

SRY-box transcription factor 18

The Human Phenotype Ontology links 39 traits to SOX18, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Absent eyebrow	Always
Absent eyelashes	Always
Sparse scalp hair	Always
Fullness of eyelids	Often (30–79%)
Big lower jaw	Not recorded
Eye folds	Not recorded
Full lips	Not recorded
Long nose	Not recorded
Oval face	Not recorded
Prominent nasal bridge	Not recorded
Sparse eyelashes	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the integument

Trait	How often it is seen
Hair loss	Very often (80–99%)
Sparse body hair	Very often (80–99%)
Dermal translucency	Often (30–79%)
Thin skin	Often (30–79%)
Skin degeneration	Sometimes (5–29%)
Freckling	Not recorded
Hyperkeratosis	Not recorded
Reduced fat tissue below the skin	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the lymphatic system	Very often (80–99%)
Cutis marmorata	Often (30–79%)
Facial telangiectasia in butterfly midface distribution	Not recorded
Pulmonary lymphangiectasia	Not recorded
Telangiectasia of extensor surfaces	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydrocele testis	Always
Abnormal renal glomerulus morphology	Not recorded
Chronic kidney disease	Not recorded
Membranoproliferative glomerulonephritis	Not recorded
Renal failure	Not recorded

Laboratory abnormality

Trait	How often it is seen
Swelling caused by excess lymph fluid under skin	Always
Predominantly lower limb lymphedema	Very often (80–99%)
Fluid around lungs	Sometimes (5–29%)
Hydrops fetalis	Sometimes (5–29%)
Nonimmune hydrops fetalis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Palmar telangiectasia	Very often (80–99%)
Plantar telangiectasia	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Sometimes (5–29%)

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 SOX18 and how often each is seen. Find out more at hpo.jax.org.

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