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Kenmerken

Kenmerken gekoppeld aan SMARCA2

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

De Human Phenotype Ontology koppelt 152 kenmerken aan SMARCA2, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Eye foldsAltijd
Narrow opening between the eyelidsAltijd
Triangular faceAltijd
Abnormally small headHeel vaak (80–99%)
Broad philtrumHeel vaak (80–99%)
Decreased volume of lipHeel vaak (80–99%)
Drooping lower lipHeel vaak (80–99%)
Full lower lipHeel vaak (80–99%)
High, narrow palateHeel vaak (80–99%)
Long philtrumHeel vaak (80–99%)
Nasal tip, upturnedHeel vaak (80–99%)
Smooth philtrumHeel vaak (80–99%)
Sparse scalp hairHeel vaak (80–99%)
Thick nasal alaeHeel vaak (80–99%)
Thin red part of the upper lipHeel vaak (80–99%)
Wide mouthHeel vaak (80–99%)
Bulbous noseVaak (30–79%)
Curly eyelashesVaak (30–79%)
Dimple chinVaak (30–79%)
Downward slanting of the opening between the eyelidsVaak (30–79%)
DroolingVaak (30–79%)
Exaggerated cupid's bowVaak (30–79%)
Flat faceVaak (30–79%)
Frontal bossingVaak (30–79%)
Highly arched eyebrowVaak (30–79%)
Long eyelashesVaak (30–79%)
Low frontal hairlineVaak (30–79%)
Low hairline at back of neckVaak (30–79%)
Low hanging columellaVaak (30–79%)
Narrow eyelid openingVaak (30–79%)
Narrow nasal bridgeVaak (30–79%)
Short lingual frenulumVaak (30–79%)
Short noseVaak (30–79%)
Short opening between the eyelidsVaak (30–79%)
Skin tag in front of the earVaak (30–79%)
Sparse eyebrowVaak (30–79%)
Sparse eyelashesVaak (30–79%)
Sparse medial eyebrowVaak (30–79%)
Underdeveloped tissue around nostrilVaak (30–79%)
Wide nasal bridgeVaak (30–79%)
Widely spaced teethVaak (30–79%)
Wrinkles around the eyesVaak (30–79%)
Asymmetry of the posterior headSoms (5–29%)
Bad biteSoms (5–29%)
Decreased size of toothSoms (5–29%)
MonobrowSoms (5–29%)
Narrow nasal ridgeSoms (5–29%)
Short philtrumSoms (5–29%)
Thick eyebrowSoms (5–29%)
Thin dental enamelSoms (5–29%)
Wide noseSoms (5–29%)
Absent eyebrowNiet vastgelegd
Unequal size of opening between the eyelidsNiet vastgelegd
Wide nasal baseNiet vastgelegd

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
EpilepsyAltijd
Global developmental delayAltijd
Intellectual disabilityAltijd
Difficulty finding wordsHeel vaak (80–99%)
Echoing another person's speechHeel vaak (80–99%)
Inability to speakHeel vaak (80–99%)
Specific learning disabilityHeel vaak (80–99%)
Aggressive behaviorVaak (30–79%)
Attention deficitVaak (30–79%)
Brief seizures with staring spellsVaak (30–79%)
Delayed ability to walkVaak (30–79%)
Delayed speech and language developmentVaak (30–79%)
Epileptic spasmVaak (30–79%)
Inability to coordinate movements when walkingVaak (30–79%)
Intellectual disability, severeVaak (30–79%)
Repeated seizures without recovery between themVaak (30–79%)
Short attention spanVaak (30–79%)
Autism spectrum disorderSoms (5–29%)
Chiari malformationSoms (5–29%)
Hypoplasia of the ponsSoms (5–29%)
Low frustration toleranceSoms (5–29%)
OverfriendlinessSoms (5–29%)
Repetitive movementsSoms (5–29%)
Thin corpus callosumSoms (5–29%)
Absent speech developmentNiet vastgelegd
Poor speechNiet vastgelegd

Abnormality of limbs

KenmerkHoe vaak het voorkomt
Gap between 1st and 2nd toesAltijd
Abnormal shape of long bones of handHeel vaak (80–99%)
Short fingers or toesHeel vaak (80–99%)
Short palmHeel vaak (80–99%)
Abnormalities of the fingersVaak (30–79%)
Broad outermost finger boneVaak (30–79%)
BunionVaak (30–79%)
Clubbed toesVaak (30–79%)
Dropped archesVaak (30–79%)
Long fingersVaak (30–79%)
Long toeVaak (30–79%)
Prominent hinge jointsVaak (30–79%)
Short long bone of footVaak (30–79%)
Shortened long bone of handVaak (30–79%)
Single transverse palmar creaseVaak (30–79%)
Tapered fingerVaak (30–79%)
Wide 2nd toeVaak (30–79%)
Club feetSoms (5–29%)
Curvature of little fingerSoms (5–29%)
Short outermost finger boneSoms (5–29%)
Short finger bonesNiet vastgelegd

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Joint dislocationHeel vaak (80–99%)
Delayed bone maturationVaak (30–79%)
Enlarged jointsVaak (30–79%)
Flexed joint that cannot be straightenedVaak (30–79%)
Low muscle toneVaak (30–79%)
ScoliosisVaak (30–79%)
Abnormal formation of the hipSoms (5–29%)
Abnormal shape of end part of boneSoms (5–29%)
Advanced bone ageSoms (5–29%)
Double-JointedSoms (5–29%)
HerniaSoms (5–29%)

Abnormality of the integument

KenmerkHoe vaak het voorkomt
Hair lossHeel vaak (80–99%)
Sparse hairHeel vaak (80–99%)
Abnormal hair patternVaak (30–79%)
Absent/small toenailsVaak (30–79%)
BirthmarkVaak (30–79%)
Dry hairVaak (30–79%)
Excessive hair growthVaak (30–79%)
Excessive wrinkled skinVaak (30–79%)
IchthyosisVaak (30–79%)
Premature skin wrinklingVaak (30–79%)

Abnormality of the genitourinary system

KenmerkHoe vaak het voorkomt
Abnormality of the testisVaak (30–79%)
Undescended testesVaak (30–79%)
EnuresisSoms (5–29%)
Frequent urinary tract infectionsSoms (5–29%)
HypospadiasSoms (5–29%)
Underdeveloped labiaSoms (5–29%)

Growth abnormality

KenmerkHoe vaak het voorkomt
Faltering weightVaak (30–79%)
Growth delayVaak (30–79%)
Mild short statureVaak (30–79%)
Severe short statureVaak (30–79%)
Short statureVaak (30–79%)
Prenatal growth deficiencySoms (5–29%)

Abnormality of the digestive system

KenmerkHoe vaak het voorkomt
Acid refluxVaak (30–79%)
ConstipationVaak (30–79%)
Feeding difficultiesVaak (30–79%)
Inguinal herniaVaak (30–79%)
Umbilical herniaVaak (30–79%)

Abnormality of the immune system

KenmerkHoe vaak het voorkomt
EczemaVaak (30–79%)
Recurrent respiratory infectionsVaak (30–79%)
Recurrent bronchitisSoms (5–29%)
Recurrent pneumoniaSoms (5–29%)

Abnormality of the cardiovascular system

KenmerkHoe vaak het voorkomt
Narrowing of aortaVaak (30–79%)
Abnormal cardiovascular system morphologySoms (5–29%)
Patent ductus arteriosusSoms (5–29%)

Abnormality of the ear

KenmerkHoe vaak het voorkomt
Ears rotated toward back of headVaak (30–79%)
Large earsVaak (30–79%)
Low-set earsSoms (5–29%)

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Wide-set eyesVaak (30–79%)
Drooping upper eyelidSoms (5–29%)

Abnormality of the breast

KenmerkHoe vaak het voorkomt
Wide-spaced nipplesVaak (30–79%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

  • De Human Phenotype Ontology, versie 2026-09-01: de aan SMARCA2 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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