Traits

Traits linked to ARPC4

actin related protein 2/3 complex subunit 4

The Human Phenotype Ontology links 26 traits to ARPC4, 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
Delayed speech and language development	Always
Motor delay	Very often (80–99%)
Aggressive behavior	Sometimes (5–29%)
Apraxia	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Frequent temper tantrums	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Myelomeningocele	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Tethered cord	Sometimes (5–29%)
Intellectual disability, mild	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Accommodative esotropia	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Myopic astigmatism	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Facial telangiectasia	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Contracture of the proximal interphalangeal joint of the 5th finger	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Not recorded

Abnormality of the musculoskeletal system

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

Growth abnormality

Trait	How often it is seen
Short stature	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 ARPC4 and how often each is seen. Find out more at hpo.jax.org.

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