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

Abnormality of the nervous system

Trait	Cât de frecvent apare
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Difficulty finding words	Foarte des (80–99%)
Echoing another person's speech	Foarte des (80–99%)
Inability to speak	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Attention deficit	Des (30–79%)
Brief seizures with staring spells	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Epileptic spasm	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Intellectual disability, severe	Des (30–79%)
Repeated seizures without recovery between them	Des (30–79%)
Short attention span	Des (30–79%)
Autism spectrum disorder	Uneori (5–29%)
Chiari malformation	Uneori (5–29%)
Hypoplasia of the pons	Uneori (5–29%)
Low frustration tolerance	Uneori (5–29%)
Overfriendliness	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)
Thin corpus callosum	Uneori (5–29%)
Absent speech development	Neînregistrat
Poor speech	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Gap between 1st and 2nd toes	Întotdeauna
Abnormal shape of long bones of hand	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Short palm	Foarte des (80–99%)
Abnormalities of the fingers	Des (30–79%)
Broad outermost finger bone	Des (30–79%)
Bunion	Des (30–79%)
Clubbed toes	Des (30–79%)
Dropped arches	Des (30–79%)
Long fingers	Des (30–79%)
Long toe	Des (30–79%)
Prominent hinge joints	Des (30–79%)
Short long bone of foot	Des (30–79%)
Shortened long bone of hand	Des (30–79%)
Single transverse palmar crease	Des (30–79%)
Tapered finger	Des (30–79%)
Wide 2nd toe	Des (30–79%)
Club feet	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Short outermost finger bone	Uneori (5–29%)
Short finger bones	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Joint dislocation	Foarte des (80–99%)
Delayed bone maturation	Des (30–79%)
Enlarged joints	Des (30–79%)
Flexed joint that cannot be straightened	Des (30–79%)
Low muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Abnormal shape of end part of bone	Uneori (5–29%)
Advanced bone age	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Hernia	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Hair loss	Foarte des (80–99%)
Sparse hair	Foarte des (80–99%)
Abnormal hair pattern	Des (30–79%)
Absent/small toenails	Des (30–79%)
Birthmark	Des (30–79%)
Dry hair	Des (30–79%)
Excessive hair growth	Des (30–79%)
Excessive wrinkled skin	Des (30–79%)
Ichthyosis	Des (30–79%)
Premature skin wrinkling	Des (30–79%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormality of the testis	Des (30–79%)
Undescended testes	Des (30–79%)
Enuresis	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Underdeveloped labia	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth delay	Des (30–79%)
Mild short stature	Des (30–79%)
Severe short stature	Des (30–79%)
Short stature	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Inguinal hernia	Des (30–79%)
Umbilical hernia	Des (30–79%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Eczema	Des (30–79%)
Recurrent respiratory infections	Des (30–79%)
Recurrent bronchitis	Uneori (5–29%)
Recurrent pneumonia	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Narrowing of aorta	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Large ears	Des (30–79%)
Low-set ears	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Wide-set eyes	Des (30–79%)
Drooping upper eyelid	Uneori (5–29%)

Abnormality of the breast

Trait	Cât de frecvent apare
Wide-spaced nipples	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu