Traits

Traits linked to BRPF1

bromodomain and PHD finger containing 1

The Human Phenotype Ontology links 34 traits to BRPF1, 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
Corners of eye widely separated	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Abnormally small head	Often (30–79%)
Broad head shape	Often (30–79%)
Cleft palate	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
Eye folds	Often (30–79%)
High palate	Often (30–79%)
Decreased volume of lip	Sometimes (5–29%)
Narrow opening between the eyelids	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Triangular face	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Hearing impairment	Often (30–79%)
Abnormal vestibulo-ocular reflex	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Very often (80–99%)
Epilepsy	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Very often (80–99%)
Wide-set eyes	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in center of heart	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	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 BRPF1 and how often each is seen. Find out more at hpo.jax.org.

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