Tunnused

Geeniga SMARCA2 seotud tunnused

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

Inimese fenotüübi ontoloogia seostab geeniga SMARCA2 152 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Gap between 1st and 2nd toes	Alati
Abnormal shape of long bones of hand	Väga sageli (80–99%)
Short fingers or toes	Väga sageli (80–99%)
Short palm	Väga sageli (80–99%)
Abnormalities of the fingers	Sageli (30–79%)
Broad outermost finger bone	Sageli (30–79%)
Bunion	Sageli (30–79%)
Clubbed toes	Sageli (30–79%)
Dropped arches	Sageli (30–79%)
Long fingers	Sageli (30–79%)
Long toe	Sageli (30–79%)
Prominent hinge joints	Sageli (30–79%)
Short long bone of foot	Sageli (30–79%)
Shortened long bone of hand	Sageli (30–79%)
Single transverse palmar crease	Sageli (30–79%)
Tapered finger	Sageli (30–79%)
Wide 2nd toe	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
Curvature of little finger	Mõnikord (5–29%)
Short outermost finger bone	Mõnikord (5–29%)
Short finger bones	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Joint dislocation	Väga sageli (80–99%)
Delayed bone maturation	Sageli (30–79%)
Enlarged joints	Sageli (30–79%)
Flexed joint that cannot be straightened	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal formation of the hip	Mõnikord (5–29%)
Abnormal shape of end part of bone	Mõnikord (5–29%)
Advanced bone age	Mõnikord (5–29%)
Double-Jointed	Mõnikord (5–29%)
Hernia	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Hair loss	Väga sageli (80–99%)
Sparse hair	Väga sageli (80–99%)
Abnormal hair pattern	Sageli (30–79%)
Absent/small toenails	Sageli (30–79%)
Birthmark	Sageli (30–79%)
Dry hair	Sageli (30–79%)
Excessive hair growth	Sageli (30–79%)
Excessive wrinkled skin	Sageli (30–79%)
Ichthyosis	Sageli (30–79%)
Premature skin wrinkling	Sageli (30–79%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the testis	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Enuresis	Mõnikord (5–29%)
Frequent urinary tract infections	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Underdeveloped labia	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Growth delay	Sageli (30–79%)
Mild short stature	Sageli (30–79%)
Severe short stature	Sageli (30–79%)
Short stature	Sageli (30–79%)
Prenatal growth deficiency	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Sageli (30–79%)
Constipation	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Umbilical hernia	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Eczema	Sageli (30–79%)
Recurrent respiratory infections	Sageli (30–79%)
Recurrent bronchitis	Mõnikord (5–29%)
Recurrent pneumonia	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Narrowing of aorta	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Sageli (30–79%)
Large ears	Sageli (30–79%)
Low-set ears	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Wide-set eyes	Sageli (30–79%)
Drooping upper eyelid	Mõnikord (5–29%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga SMARCA2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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