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	Hvor ofte det ses
Eye folds	Altid
Narrow opening between the eyelids	Altid
Triangular face	Altid
Abnormally small head	Meget ofte (80–99 %)
Broad philtrum	Meget ofte (80–99 %)
Decreased volume of lip	Meget ofte (80–99 %)
Drooping lower lip	Meget ofte (80–99 %)
Full lower lip	Meget ofte (80–99 %)
High, narrow palate	Meget ofte (80–99 %)
Long philtrum	Meget ofte (80–99 %)
Nasal tip, upturned	Meget ofte (80–99 %)
Smooth philtrum	Meget ofte (80–99 %)
Sparse scalp hair	Meget ofte (80–99 %)
Thick nasal alae	Meget ofte (80–99 %)
Thin red part of the upper lip	Meget ofte (80–99 %)
Wide mouth	Meget ofte (80–99 %)
Bulbous nose	Ofte (30–79 %)
Curly eyelashes	Ofte (30–79 %)
Dimple chin	Ofte (30–79 %)
Downward slanting of the opening between the eyelids	Ofte (30–79 %)
Drooling	Ofte (30–79 %)
Exaggerated cupid's bow	Ofte (30–79 %)
Flat face	Ofte (30–79 %)
Frontal bossing	Ofte (30–79 %)
Highly arched eyebrow	Ofte (30–79 %)
Long eyelashes	Ofte (30–79 %)
Low frontal hairline	Ofte (30–79 %)
Low hairline at back of neck	Ofte (30–79 %)
Low hanging columella	Ofte (30–79 %)
Narrow eyelid opening	Ofte (30–79 %)
Narrow nasal bridge	Ofte (30–79 %)
Short lingual frenulum	Ofte (30–79 %)
Short nose	Ofte (30–79 %)
Short opening between the eyelids	Ofte (30–79 %)
Skin tag in front of the ear	Ofte (30–79 %)
Sparse eyebrow	Ofte (30–79 %)
Sparse eyelashes	Ofte (30–79 %)
Sparse medial eyebrow	Ofte (30–79 %)
Underdeveloped tissue around nostril	Ofte (30–79 %)
Wide nasal bridge	Ofte (30–79 %)
Widely spaced teeth	Ofte (30–79 %)
Wrinkles around the eyes	Ofte (30–79 %)
Asymmetry of the posterior head	Nogle gange (5–29 %)
Bad bite	Nogle gange (5–29 %)
Decreased size of tooth	Nogle gange (5–29 %)
Monobrow	Nogle gange (5–29 %)
Narrow nasal ridge	Nogle gange (5–29 %)
Short philtrum	Nogle gange (5–29 %)
Thick eyebrow	Nogle gange (5–29 %)
Thin dental enamel	Nogle gange (5–29 %)
Wide nose	Nogle gange (5–29 %)
Absent eyebrow	Ikke registreret
Unequal size of opening between the eyelids	Ikke registreret
Wide nasal base	Ikke registreret

Abnormality of the nervous system

Trait	Hvor ofte det ses
Epilepsy	Altid
Global developmental delay	Altid
Intellectual disability	Altid
Difficulty finding words	Meget ofte (80–99 %)
Echoing another person's speech	Meget ofte (80–99 %)
Inability to speak	Meget ofte (80–99 %)
Specific learning disability	Meget ofte (80–99 %)
Aggressive behavior	Ofte (30–79 %)
Attention deficit	Ofte (30–79 %)
Brief seizures with staring spells	Ofte (30–79 %)
Delayed ability to walk	Ofte (30–79 %)
Delayed speech and language development	Ofte (30–79 %)
Epileptic spasm	Ofte (30–79 %)
Inability to coordinate movements when walking	Ofte (30–79 %)
Intellectual disability, severe	Ofte (30–79 %)
Repeated seizures without recovery between them	Ofte (30–79 %)
Short attention span	Ofte (30–79 %)
Autism spectrum disorder	Nogle gange (5–29 %)
Chiari malformation	Nogle gange (5–29 %)
Hypoplasia of the pons	Nogle gange (5–29 %)
Low frustration tolerance	Nogle gange (5–29 %)
Overfriendliness	Nogle gange (5–29 %)
Repetitive movements	Nogle gange (5–29 %)
Thin corpus callosum	Nogle gange (5–29 %)
Absent speech development	Ikke registreret
Poor speech	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Gap between 1st and 2nd toes	Altid
Abnormal shape of long bones of hand	Meget ofte (80–99 %)
Short fingers or toes	Meget ofte (80–99 %)
Short palm	Meget ofte (80–99 %)
Abnormalities of the fingers	Ofte (30–79 %)
Broad outermost finger bone	Ofte (30–79 %)
Bunion	Ofte (30–79 %)
Clubbed toes	Ofte (30–79 %)
Dropped arches	Ofte (30–79 %)
Long fingers	Ofte (30–79 %)
Long toe	Ofte (30–79 %)
Prominent hinge joints	Ofte (30–79 %)
Short long bone of foot	Ofte (30–79 %)
Shortened long bone of hand	Ofte (30–79 %)
Single transverse palmar crease	Ofte (30–79 %)
Tapered finger	Ofte (30–79 %)
Wide 2nd toe	Ofte (30–79 %)
Club feet	Nogle gange (5–29 %)
Curvature of little finger	Nogle gange (5–29 %)
Short outermost finger bone	Nogle gange (5–29 %)
Short finger bones	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Joint dislocation	Meget ofte (80–99 %)
Delayed bone maturation	Ofte (30–79 %)
Enlarged joints	Ofte (30–79 %)
Flexed joint that cannot be straightened	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Abnormal formation of the hip	Nogle gange (5–29 %)
Abnormal shape of end part of bone	Nogle gange (5–29 %)
Advanced bone age	Nogle gange (5–29 %)
Double-Jointed	Nogle gange (5–29 %)
Hernia	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Hair loss	Meget ofte (80–99 %)
Sparse hair	Meget ofte (80–99 %)
Abnormal hair pattern	Ofte (30–79 %)
Absent/small toenails	Ofte (30–79 %)
Birthmark	Ofte (30–79 %)
Dry hair	Ofte (30–79 %)
Excessive hair growth	Ofte (30–79 %)
Excessive wrinkled skin	Ofte (30–79 %)
Ichthyosis	Ofte (30–79 %)
Premature skin wrinkling	Ofte (30–79 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Abnormality of the testis	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Enuresis	Nogle gange (5–29 %)
Frequent urinary tract infections	Nogle gange (5–29 %)
Hypospadias	Nogle gange (5–29 %)
Underdeveloped labia	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Faltering weight	Ofte (30–79 %)
Growth delay	Ofte (30–79 %)
Mild short stature	Ofte (30–79 %)
Severe short stature	Ofte (30–79 %)
Short stature	Ofte (30–79 %)
Prenatal growth deficiency	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Acid reflux	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Inguinal hernia	Ofte (30–79 %)
Umbilical hernia	Ofte (30–79 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Eczema	Ofte (30–79 %)
Recurrent respiratory infections	Ofte (30–79 %)
Recurrent bronchitis	Nogle gange (5–29 %)
Recurrent pneumonia	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Narrowing of aorta	Ofte (30–79 %)
Abnormal cardiovascular system morphology	Nogle gange (5–29 %)
Patent ductus arteriosus	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Ears rotated toward back of head	Ofte (30–79 %)
Large ears	Ofte (30–79 %)
Low-set ears	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Wide-set eyes	Ofte (30–79 %)
Drooping upper eyelid	Nogle gange (5–29 %)

Abnormality of the breast

Trait	Hvor ofte det ses
Wide-spaced nipples	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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