Traits

Traits linked to SMARCA2

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

The Human Phenotype Ontology links 152 traits to SMARCA2, 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
Eye folds	Always
Narrow opening between the eyelids	Always
Triangular face	Always
Abnormally small head	Very often (80–99%)
Broad philtrum	Very often (80–99%)
Decreased volume of lip	Very often (80–99%)
Drooping lower lip	Very often (80–99%)
Full lower lip	Very often (80–99%)
High, narrow palate	Very often (80–99%)
Long philtrum	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Smooth philtrum	Very often (80–99%)
Sparse scalp hair	Very often (80–99%)
Thick nasal alae	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Wide mouth	Very often (80–99%)
Bulbous nose	Often (30–79%)
Curly eyelashes	Often (30–79%)
Dimple chin	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooling	Often (30–79%)
Exaggerated cupid's bow	Often (30–79%)
Flat face	Often (30–79%)
Frontal bossing	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Long eyelashes	Often (30–79%)
Low frontal hairline	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Low hanging columella	Often (30–79%)
Narrow eyelid opening	Often (30–79%)
Narrow nasal bridge	Often (30–79%)
Short lingual frenulum	Often (30–79%)
Short nose	Often (30–79%)
Short opening between the eyelids	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Sparse medial eyebrow	Often (30–79%)
Underdeveloped tissue around nostril	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Widely spaced teeth	Often (30–79%)
Wrinkles around the eyes	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Bad bite	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow nasal ridge	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Thin dental enamel	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)
Absent eyebrow	Not recorded
Unequal size of opening between the eyelids	Not recorded
Wide nasal base	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Global developmental delay	Always
Intellectual disability	Always
Difficulty finding words	Very often (80–99%)
Echoing another person's speech	Very often (80–99%)
Inability to speak	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Attention deficit	Often (30–79%)
Brief seizures with staring spells	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Epileptic spasm	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Short attention span	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Hypoplasia of the pons	Sometimes (5–29%)
Low frustration tolerance	Sometimes (5–29%)
Overfriendliness	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)
Absent speech development	Not recorded
Poor speech	Not recorded

Abnormality of limbs

Trait	How often it is seen
Gap between 1st and 2nd toes	Always
Abnormal shape of long bones of hand	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Short palm	Very often (80–99%)
Abnormalities of the fingers	Often (30–79%)
Broad outermost finger bone	Often (30–79%)
Bunion	Often (30–79%)
Clubbed toes	Often (30–79%)
Dropped arches	Often (30–79%)
Long fingers	Often (30–79%)
Long toe	Often (30–79%)
Prominent hinge joints	Often (30–79%)
Short long bone of foot	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Tapered finger	Often (30–79%)
Wide 2nd toe	Often (30–79%)
Club feet	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Short outermost finger bone	Sometimes (5–29%)
Short finger bones	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint dislocation	Very often (80–99%)
Delayed bone maturation	Often (30–79%)
Enlarged joints	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Abnormal shape of end part of bone	Sometimes (5–29%)
Advanced bone age	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Hernia	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hair loss	Very often (80–99%)
Sparse hair	Very often (80–99%)
Abnormal hair pattern	Often (30–79%)
Absent/small toenails	Often (30–79%)
Birthmark	Often (30–79%)
Dry hair	Often (30–79%)
Excessive hair growth	Often (30–79%)
Excessive wrinkled skin	Often (30–79%)
Ichthyosis	Often (30–79%)
Premature skin wrinkling	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the testis	Often (30–79%)
Undescended testes	Often (30–79%)
Enuresis	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Underdeveloped labia	Sometimes (5–29%)

Growth abnormality

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

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Eczema	Often (30–79%)
Recurrent respiratory infections	Often (30–79%)
Recurrent bronchitis	Sometimes (5–29%)
Recurrent pneumonia	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of aorta	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Large ears	Often (30–79%)
Low-set ears	Sometimes (5–29%)

Abnormality of the eye

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

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

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 SMARCA2 and how often each is seen. Find out more at hpo.jax.org.

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