Traits

Traits linked to SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

The Human Phenotype Ontology links 85 traits to SMARCA4, by body system: features seen in people with one of the gene's rare conditions.

SMARCA4

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Full lower lip	Very often (80–99%)
Long eyelashes	Very often (80–99%)
Prominent eyelashes	Very often (80–99%)
Thick eyebrow	Very often (80–99%)
Wide mouth	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Broad nasal tip	Often (30–79%)
Broad philtrum	Often (30–79%)
Cleft palate	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Drooping upper lip	Often (30–79%)
Low frontal hairline	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Recurrent colds	Often (30–79%)
Short nose	Often (30–79%)
Short philtrum	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Thick nasal alae	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Wide nasal base	Often (30–79%)
Dandy-Walker malformation	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Narrow nasal bridge	Sometimes (5–29%)
Abnormally large tongue	Not recorded
Wide nose	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Absent speech development	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Oral aversion	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Mitral atresia	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Pulmonary artery atresia	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Double-Jointed	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Hernia	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the genitourinary system	Often (30–79%)
Rhabdoid tumor of the kidney	Often (30–79%)
Undescended testes	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Always
Small nail	Very often (80–99%)
Excessive hairiness	Often (30–79%)
Small fifth toenail	Often (30–79%)
Underdeveloped fifth fingernail	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Short 5th finger	Always
Short little toe bone	Always
Curvature of digit	Often (30–79%)
Prominent hinge joints	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Visual impairment	Often (30–79%)
Close sighted	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Growth delay as children	Often (30–79%)
Prenatal growth deficiency	Rarely (1–4%)
Short stature	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Hepatoblastoma	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Otosclerosis	Always

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Often (30–79%)
Recurrent infections	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Atypical teratoid/rhabdoid tumor	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Papillary thyroid carcinoma	Rarely (1–4%)

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 SMARCA4 and how often each is seen. Find out more at hpo.jax.org.

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