Traits

Traits linked to CFL2

cofilin 2

The Human Phenotype Ontology links 67 traits to CFL2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Centrally nucleated skeletal muscle fibers	Întotdeauna
Frequent falls	Întotdeauna
Gowers sign	Întotdeauna
Increased variability in muscle fiber diameter	Întotdeauna
Minicore myopathy	Întotdeauna
Muscle weakness	Întotdeauna
Neck muscle weakness	Întotdeauna
Type 1 muscle fiber predominance	Întotdeauna
Z-band streaming	Întotdeauna
Axial muscle weakness	Des (30–79%)
Decreased lung function due to weak breathing muscles	Des (30–79%)
Excessive inward curvature of lower spine	Des (30–79%)
Fatigable weakness of distal limb muscles	Des (30–79%)
Fatty replacement of skeletal muscle	Des (30–79%)
Increased endomysial connective tissue	Des (30–79%)
Kyphoscoliosis	Des (30–79%)
Low muscle tone	Des (30–79%)
Low muscle tone, in neonatal onset	Des (30–79%)
Neck flexion weakness	Des (30–79%)
Arthrogryposis multiplex congenita	Uneori (5–29%)
Fatigable weakness of respiratory muscles	Uneori (5–29%)
Fatiguable weakness of proximal limb muscles	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Reduced spine movement	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Hunched back	Rar (1–4%)

Abnormality of limbs

Trait	Cât de frecvent apare
Decreased arm strength	Întotdeauna
Limb muscle weakness	Întotdeauna
Lower limb muscle weakness	Întotdeauna
Weak shoulder muscles	Întotdeauna
Back knee	Des (30–79%)
Dropped arches	Des (30–79%)
Foot drop	Des (30–79%)
Knee contracture	Des (30–79%)
Limb-girdle muscle weakness	Des (30–79%)
Hip dislocation	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Outward bow-leggedness	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Delayed ability to walk	Întotdeauna
Delayed motor skills	Întotdeauna
Motor delay	Întotdeauna
Abnormal gait	Des (30–79%)
Abnormally low-pitched voice	Des (30–79%)
Absent reflexes	Des (30–79%)
Decreased reflex response	Des (30–79%)
Twitching	Des (30–79%)
Waddling gait	Des (30–79%)
Decreased muscle movement	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Bell's palsy	Des (30–79%)
High palate	Des (30–79%)
Weakness of facial musculature	Des (30–79%)
Facial diplegia	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Narrow face	Uneori (5–29%)
Short neck	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Feet or buttocks of fetus positioned near opening of uterus	Des (30–79%)
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Respiratory function loss	Des (30–79%)
Nocturnal hypoventilation	Uneori (5–29%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Nemaline bodies	Des (30–79%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Drooping upper eyelid	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Elevated blood creatine phosphokinase	Uneori (5–29%)

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 CFL2 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