Traits

Traits linked to SMARCC2

SWI/SNF related BAF chromatin remodeling complex subunit C2

The Human Phenotype Ontology links 78 traits to SMARCC2, 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
Coarse facial features	Very often (80–99%)
Full lower lip	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%)
Delayed eruption of teeth	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Long eyelashes	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%)
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%)
Abnormally small head	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Delayed speech and language development	Very often (80–99%)
Absent speech development	Often (30–79%)
Aggressive behavior	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
More active than typical	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Oral aversion	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Decreased muscle tone in infant	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Double-Jointed	Often (30–79%)
Scoliosis	Often (30–79%)
Hernia	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%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Very often (80–99%)
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 the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Poor suck	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)
Hepatoblastoma	Rarely (1–4%)

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%)

Abnormality of the genitourinary system

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

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Growth delay as children	Often (30–79%)
Prenatal growth deficiency	Rarely (1–4%)

Abnormality of the immune system

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

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Often (30–79%)
Short 5th finger	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	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 SMARCC2 and how often each is seen. Find out more at hpo.jax.org.

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