Traits

Traits linked to SOX5

SRY-box transcription factor 5

The Human Phenotype Ontology links 68 traits to SOX5, 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
Intellectual disability	Always
Motor delay	Always
Delayed speech and language development	Very often (80–99%)
Abnormal shape of brain	Often (30–79%)
Anxiety	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Pressure on spinal cord	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Rise in pressure inside skull	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Global developmental delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big maxilla	Very often (80–99%)
Deep central lingual groove	Often (30–79%)
Dental crowding	Often (30–79%)
Frontal bossing	Often (30–79%)
Narrow palate	Often (30–79%)
Bulbous nose	Not recorded
Depressed nasal bridge	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Eye folds	Not recorded
Facial asymmetry	Not recorded
Open mouth	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal skin pigmentation	Very often (80–99%)
Giant pigmented mole	Very often (80–99%)
Mole	Very often (80–99%)
Dry skin	Often (30–79%)
Lack of sweating	Often (30–79%)
Poor wound healing	Often (30–79%)
Cutaneous melanoma	Sometimes (5–29%)
Excessive hair growth	Sometimes (5–29%)
Firm lump under the skin	Sometimes (5–29%)
Itching	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Excessive inward curvature of lower spine	Often (30–79%)
Low muscle tone	Often (30–79%)
Pigeon chest	Often (30–79%)
Thoracic kyphoscoliosis	Often (30–79%)
Vertebral fusion	Often (30–79%)
Butterfly vertebrae	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Vertebral clefting	Sometimes (5–29%)
Hypophosphatemic rickets	Rarely (1–4%)
Generalized decreased muscle tone	Not recorded

Abnormality of limbs

Trait	How often it is seen
Webbed 2nd and 3rd toes	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Long big toe	Sometimes (5–29%)
Long fingers	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)
Curvature of digit	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Often (30–79%)
Cross-eyed	Often (30–79%)
Optic atrophy	Often (30–79%)
Outward facing eye ball	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Not recorded
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the reproductive system	Sometimes (5–29%)
Undescended testes	Rarely (1–4%)

Abnormality of the cardiovascular system

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

Abnormality of the endocrine system

Trait	How often it is seen
Premature breast development	Rarely (1–4%)

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 SOX5 and how often each is seen. Find out more at hpo.jax.org.

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