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

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Decreased arm strength	Her zaman
Limb muscle weakness	Her zaman
Lower limb muscle weakness	Her zaman
Weak shoulder muscles	Her zaman
Back knee	Sık (%30–79)
Dropped arches	Sık (%30–79)
Foot drop	Sık (%30–79)
Knee contracture	Sık (%30–79)
Limb-girdle muscle weakness	Sık (%30–79)
Hip dislocation	Bazen (%5–29)
Knock knees	Bazen (%5–29)
Outward bow-leggedness	Bazen (%5–29)

Abnormality of the nervous system

Trait	Ne sıklıkla görüldüğü
Delayed ability to walk	Her zaman
Delayed motor skills	Her zaman
Motor delay	Her zaman
Abnormal gait	Sık (%30–79)
Abnormally low-pitched voice	Sık (%30–79)
Absent reflexes	Sık (%30–79)
Decreased reflex response	Sık (%30–79)
Twitching	Sık (%30–79)
Waddling gait	Sık (%30–79)
Decreased muscle movement	Bazen (%5–29)

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Bell's palsy	Sık (%30–79)
High palate	Sık (%30–79)
Weakness of facial musculature	Sık (%30–79)
Facial diplegia	Bazen (%5–29)
Little lower jaw	Bazen (%5–29)
Narrow face	Bazen (%5–29)
Short neck	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Feet or buttocks of fetus positioned near opening of uterus	Sık (%30–79)
High levels of amniotic fluid	Bazen (%5–29)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Respiratory function loss	Sık (%30–79)
Nocturnal hypoventilation	Bazen (%5–29)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Nemaline bodies	Sık (%30–79)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Feeding difficulties	Bazen (%5–29)

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Drooping upper eyelid	Bazen (%5–29)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Elevated blood creatine phosphokinase	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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.

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