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

Abnormality of the nervous system

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

Abnormality of limbs

Trait	나타나는 빈도
Gap between 1st and 2nd toes	항상
Abnormal shape of long bones of hand	매우 자주 (80–99%)
Short fingers or toes	매우 자주 (80–99%)
Short palm	매우 자주 (80–99%)
Abnormalities of the fingers	자주 (30–79%)
Broad outermost finger bone	자주 (30–79%)
Bunion	자주 (30–79%)
Clubbed toes	자주 (30–79%)
Dropped arches	자주 (30–79%)
Long fingers	자주 (30–79%)
Long toe	자주 (30–79%)
Prominent hinge joints	자주 (30–79%)
Short long bone of foot	자주 (30–79%)
Shortened long bone of hand	자주 (30–79%)
Single transverse palmar crease	자주 (30–79%)
Tapered finger	자주 (30–79%)
Wide 2nd toe	자주 (30–79%)
Club feet	가끔 (5–29%)
Curvature of little finger	가끔 (5–29%)
Short outermost finger bone	가끔 (5–29%)
Short finger bones	기록되지 않음

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Joint dislocation	매우 자주 (80–99%)
Delayed bone maturation	자주 (30–79%)
Enlarged joints	자주 (30–79%)
Flexed joint that cannot be straightened	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Scoliosis	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Abnormal shape of end part of bone	가끔 (5–29%)
Advanced bone age	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Hernia	가끔 (5–29%)

Abnormality of the integument

Trait	나타나는 빈도
Hair loss	매우 자주 (80–99%)
Sparse hair	매우 자주 (80–99%)
Abnormal hair pattern	자주 (30–79%)
Absent/small toenails	자주 (30–79%)
Birthmark	자주 (30–79%)
Dry hair	자주 (30–79%)
Excessive hair growth	자주 (30–79%)
Excessive wrinkled skin	자주 (30–79%)
Ichthyosis	자주 (30–79%)
Premature skin wrinkling	자주 (30–79%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Abnormality of the testis	자주 (30–79%)
Undescended testes	자주 (30–79%)
Enuresis	가끔 (5–29%)
Frequent urinary tract infections	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Underdeveloped labia	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Faltering weight	자주 (30–79%)
Growth delay	자주 (30–79%)
Mild short stature	자주 (30–79%)
Severe short stature	자주 (30–79%)
Short stature	자주 (30–79%)
Prenatal growth deficiency	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Acid reflux	자주 (30–79%)
Constipation	자주 (30–79%)
Feeding difficulties	자주 (30–79%)
Inguinal hernia	자주 (30–79%)
Umbilical hernia	자주 (30–79%)

Abnormality of the immune system

Trait	나타나는 빈도
Eczema	자주 (30–79%)
Recurrent respiratory infections	자주 (30–79%)
Recurrent bronchitis	가끔 (5–29%)
Recurrent pneumonia	가끔 (5–29%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Narrowing of aorta	자주 (30–79%)
Abnormal cardiovascular system morphology	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)

Abnormality of the ear

Trait	나타나는 빈도
Ears rotated toward back of head	자주 (30–79%)
Large ears	자주 (30–79%)
Low-set ears	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Wide-set eyes	자주 (30–79%)
Drooping upper eyelid	가끔 (5–29%)

Abnormality of the breast

Trait	나타나는 빈도
Wide-spaced nipples	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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