Kjennetegn

Kjennetegn knyttet til SMARCA2

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

Human Phenotype Ontology knytter 152 kjennetegn til SMARCA2, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

SMARCA2

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Eye folds	Alltid
Narrow opening between the eyelids	Alltid
Triangular face	Alltid
Abnormally small head	Svært ofte (80–99 %)
Broad philtrum	Svært ofte (80–99 %)
Decreased volume of lip	Svært ofte (80–99 %)
Drooping lower lip	Svært ofte (80–99 %)
Full lower lip	Svært ofte (80–99 %)
High, narrow palate	Svært ofte (80–99 %)
Long philtrum	Svært ofte (80–99 %)
Nasal tip, upturned	Svært ofte (80–99 %)
Smooth philtrum	Svært ofte (80–99 %)
Sparse scalp hair	Svært ofte (80–99 %)
Thick nasal alae	Svært ofte (80–99 %)
Thin red part of the upper lip	Svært ofte (80–99 %)
Wide mouth	Svært 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	Noen ganger (5–29 %)
Bad bite	Noen ganger (5–29 %)
Decreased size of tooth	Noen ganger (5–29 %)
Monobrow	Noen ganger (5–29 %)
Narrow nasal ridge	Noen ganger (5–29 %)
Short philtrum	Noen ganger (5–29 %)
Thick eyebrow	Noen ganger (5–29 %)
Thin dental enamel	Noen ganger (5–29 %)
Wide nose	Noen ganger (5–29 %)
Absent eyebrow	Ikke registrert
Unequal size of opening between the eyelids	Ikke registrert
Wide nasal base	Ikke registrert

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Epilepsy	Alltid
Global developmental delay	Alltid
Intellectual disability	Alltid
Difficulty finding words	Svært ofte (80–99 %)
Echoing another person's speech	Svært ofte (80–99 %)
Inability to speak	Svært ofte (80–99 %)
Specific learning disability	Svært 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	Noen ganger (5–29 %)
Chiari malformation	Noen ganger (5–29 %)
Hypoplasia of the pons	Noen ganger (5–29 %)
Low frustration tolerance	Noen ganger (5–29 %)
Overfriendliness	Noen ganger (5–29 %)
Repetitive movements	Noen ganger (5–29 %)
Thin corpus callosum	Noen ganger (5–29 %)
Absent speech development	Ikke registrert
Poor speech	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Gap between 1st and 2nd toes	Alltid
Abnormal shape of long bones of hand	Svært ofte (80–99 %)
Short fingers or toes	Svært ofte (80–99 %)
Short palm	Svært 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	Noen ganger (5–29 %)
Curvature of little finger	Noen ganger (5–29 %)
Short outermost finger bone	Noen ganger (5–29 %)
Short finger bones	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Joint dislocation	Svært 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	Noen ganger (5–29 %)
Abnormal shape of end part of bone	Noen ganger (5–29 %)
Advanced bone age	Noen ganger (5–29 %)
Double-Jointed	Noen ganger (5–29 %)
Hernia	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Hair loss	Svært ofte (80–99 %)
Sparse hair	Svært 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

Kjennetegn	Hvor ofte den forekommer
Abnormality of the testis	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Enuresis	Noen ganger (5–29 %)
Frequent urinary tract infections	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Underdeveloped labia	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
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	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
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

Kjennetegn	Hvor ofte den forekommer
Eczema	Ofte (30–79 %)
Recurrent respiratory infections	Ofte (30–79 %)
Recurrent bronchitis	Noen ganger (5–29 %)
Recurrent pneumonia	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Narrowing of aorta	Ofte (30–79 %)
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Ears rotated toward back of head	Ofte (30–79 %)
Large ears	Ofte (30–79 %)
Low-set ears	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Wide-set eyes	Ofte (30–79 %)
Drooping upper eyelid	Noen ganger (5–29 %)

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Wide-spaced nipples	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til SMARCA2 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test