Traits

Traits linked to SOX11

SRY-box transcription factor 11

The Human Phenotype Ontology links 90 traits to SOX11, by body system: features seen in people with one of the gene's rare conditions.

SOX11

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Drooping lower lip	Always
Full cheeks	Always
Coarse facial features	Very often (80–99%)
Full lower lip	Very often (80–99%)
Prominent eyelashes	Very often (80–99%)
Thick eyebrow	Very often (80–99%)
Wide mouth	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Broad nasal tip	Often (30–79%)
Broad philtrum	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
Full lips	Often (30–79%)
High palate	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Long eyelashes	Often (30–79%)
Long nose	Often (30–79%)
Low frontal hairline	Often (30–79%)
Low hanging columella	Often (30–79%)
Midface retrusion	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Open mouth	Often (30–79%)
Recurrent colds	Often (30–79%)
Short chin	Often (30–79%)
Short nose	Often (30–79%)
Short opening between the eyelids	Often (30–79%)
Short philtrum	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Thick nasal alae	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Underdeveloped tissue around nostril	Often (30–79%)
Wide nasal base	Often (30–79%)
Dandy-Walker malformation	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Always
Behavioral abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Oral aversion	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal rotation of the kidneys	Often (30–79%)
Abnormality of the genitourinary system	Often (30–79%)
Small uterus	Often (30–79%)
Undescended testes	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Double-Jointed	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Hernia	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Always
Small fifth toenail	Always
Underdeveloped fifth fingernail	Always
Small nail	Very often (80–99%)
Excessive hairiness	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Visual impairment	Often (30–79%)
Close sighted	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Prenatal growth deficiency	Always
Short stature	Always
Growth delay as children	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Always
Short 5th finger	Often (30–79%)
Short outermost finger bone	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Poor suck	Often (30–79%)
Hepatoblastoma	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Hearing impairment	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Often (30–79%)
Papillary thyroid carcinoma	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Often (30–79%)
Recurrent infections	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 SOX11 and how often each is seen. Find out more at hpo.jax.org.

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