Traits

Traits linked to BCL11A

BCL11 transcription factor A

The Human Phenotype Ontology links 109 traits to BCL11A, 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
Abnormally small head	Very often (80–99%)
Corners of eye widely separated	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Drooping lower lip	Very often (80–99%)
Eye folds	Very often (80–99%)
High palate	Very often (80–99%)
Long philtrum	Very often (80–99%)
Narrow mouth	Very often (80–99%)
Narrow opening between the eyelids	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Smooth philtrum	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Broad head shape	Often (30–79%)
Long eyelashes	Often (30–79%)
Midface retrusion	Often (30–79%)
Narrow forehead	Often (30–79%)
Prominent nasal tip	Often (30–79%)
Receding chin	Often (30–79%)
Sloping forehead	Often (30–79%)
Bell's palsy	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent metopic ridge	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Global developmental delay	Always
Intellectual disability	Always
Delayed speech and language development	Very often (80–99%)
IQ between 34 and 49	Very often (80–99%)
Attention deficit	Often (30–79%)
Autism	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Cerebellar vermis atrophy	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
EEG abnormality	Sometimes (5–29%)
Instability or lack of coordination of central trunk muscles	Sometimes (5–29%)
Limb ataxia	Sometimes (5–29%)
Recurrent hand flapping	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Wide based walk	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Very often (80–99%)
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone	Often (30–79%)
Lower limb spasticity	Often (30–79%)
Anterior concavity of thoracic vertebrae	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Wide rib cage	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Front half of foot turns inward	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Tapered finger	Often (30–79%)
Bilateral single transverse palmar creases	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Toe curvature	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Drooping upper eyelid	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Optic nerve hypoplasia	Very often (80–99%)
Blue outer white part of eyeball	Often (30–79%)
Visual impairment	Often (30–79%)
Noninflammatory retina disease	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Persistence of hemoglobin F	Always
HbS hemoglobin	Often (30–79%)
Hypochromic microcytic anemia	Sometimes (5–29%)
Increased immature red blood cells	Sometimes (5–29%)
Increased red cell sickling tendency	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent spleen	Sometimes (5–29%)
Aortic regurgitation	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Splenic infarction	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Prominent ear	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Cupped ear	Not recorded
Overfolded ears	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Sometimes (5–29%)
Tall stature	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)
Accessory nipple	Sometimes (5–29%)
Enlarged male breast	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Often (30–79%)
Decreased testicular size	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)
Severe infection	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Lung infiltrates	Sometimes (5–29%)
Softening of voice box tissue	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Fine hair	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Joint pain	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 BCL11A and how often each is seen. Find out more at hpo.jax.org.

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