Traits

Traits linked to SH2B1

SH2B adaptor protein 1

The Human Phenotype Ontology links 78 traits to SH2B1, 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
Attention deficit	Very often (80–99%)
Autism spectrum disorder	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Increased appetite	Very often (80–99%)
Poor social interactions	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Brain imaging abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Moderate receptive language delay	Often (30–79%)
Motor delay	Often (30–79%)
No social interaction	Often (30–79%)
Severe expressive language delay	Often (30–79%)
Specific learning disability	Often (30–79%)
Speech articulation difficulties	Often (30–79%)
Autism	Sometimes (5–29%)
Chiari type I malformation	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)
Migraine	Sometimes (5–29%)
Paroxysmal dyskinesia	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Speech apraxia	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Fluid-filled cyst in spinal cord	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Low frontal hairline	Very often (80–99%)
Narrow mouth	Very often (80–99%)
Oval face	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Big calvaria	Often (30–79%)
Abnormal facial shape	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Enlarged cisterna magna	Sometimes (5–29%)
Flattening of the skull base	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Cleft palate	Rarely (1–4%)
Deformity of the skull	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Very often (80–99%)
Abnormal vertebral morphology	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Congenital diaphragmatic hernia	Rarely (1–4%)
Rib fusion	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Very often (80–99%)
High blood uric acid level	Often (30–79%)
High urine protein levels	Often (30–79%)
Elevated lipids in blood	Not recorded
High blood sugar	Not recorded
High liver enzymes	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Often (30–79%)
Enlarged colon lacking nerve cells	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Pyloric stenosis	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Often (30–79%)
Absent kidney	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Multicystic kidney dysplasia	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal aortic valve morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Heart tip and four chambers point towards right side of body	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Very often (80–99%)
Rod-cone dystrophy	Very often (80–99%)
Wide-set eyes	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	Very often (80–99%)
Short stature	Very often (80–99%)
Faltering weight	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Long slender fingers	Very often (80–99%)
Extra finger	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Sometimes (5–29%)
Sensorineural hearing impairment	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 SH2B1 and how often each is seen. Find out more at hpo.jax.org.

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