Traits

Traits linked to BPTF

bromodomain PHD finger transcription factor

The Human Phenotype Ontology links 74 traits to BPTF, by body system: features seen in people with one of the gene's rare conditions.

BPTF

Abnormality of head or neck

Trait	How often it is seen
Abnormal dental position	Often (30–79%)
Abnormally small head	Often (30–79%)
Broad neck	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Little lower jaw	Often (30–79%)
Midface retrusion	Often (30–79%)
Monobrow	Often (30–79%)
Prominent nose	Often (30–79%)
Short neck	Often (30–79%)
Short philtrum	Often (30–79%)
Thick eyebrow	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Triangular face	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Broad eyebrow	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Long nasal bridge	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Short opening between the eyelids	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the ankle	Often (30–79%)
Abnormality of the wrist	Often (30–79%)
Broad big toe	Often (30–79%)
Curvature of little finger	Often (30–79%)
Outward turned elbows	Often (30–79%)
Upper limb undergrowth	Often (30–79%)
Broad thumb	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Hemihypotrophy of lower limb	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)
Slender finger	Sometimes (5–29%)
Small hand	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability, mild	Very often (80–99%)
Motor delay	Very often (80–99%)
Abnormal cerebral white matter morphology	Often (30–79%)
Anxiety	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Impaired visuospatial constructive cognition	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Often (30–79%)
Deeply set eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Wide-set eyes	Often (30–79%)
Esodeviation	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Progressive conductive hearing impairment	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)
Small ears	Often (30–79%)
Otosclerosis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus after birth at term	Sometimes (5–29%)
Prolonged QT interval	Sometimes (5–29%)
Narrowing of pulmonic valve	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Generalized low muscle tone in neonate	Often (30–79%)
Scoliosis	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Truncal obesity	Very often (80–99%)
Faltering weight in infancy	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Pineal cyst	Rarely (1–4%)
Decreased response to growth hormone stimulation test	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Previous menstrual periods stop	Sometimes (5–29%)
Vesicoureteral reflux	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Hyperpigmented skin patches	Not recorded
Kaposi's sarcoma	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Not recorded

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

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