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

Trait	나타나는 빈도
Delayed ability to walk	항상
Delayed motor skills	항상
Motor delay	항상
Abnormal gait	자주 (30–79%)
Abnormally low-pitched voice	자주 (30–79%)
Absent reflexes	자주 (30–79%)
Decreased reflex response	자주 (30–79%)
Twitching	자주 (30–79%)
Waddling gait	자주 (30–79%)
Decreased muscle movement	가끔 (5–29%)

Trait	나타나는 빈도
Bell's palsy	자주 (30–79%)
High palate	자주 (30–79%)
Weakness of facial musculature	자주 (30–79%)
Facial diplegia	가끔 (5–29%)
Little lower jaw	가끔 (5–29%)
Narrow face	가끔 (5–29%)
Short neck	가끔 (5–29%)

Trait	나타나는 빈도
Feet or buttocks of fetus positioned near opening of uterus	자주 (30–79%)
High levels of amniotic fluid	가끔 (5–29%)

Trait	나타나는 빈도
Respiratory function loss	자주 (30–79%)
Nocturnal hypoventilation	가끔 (5–29%)

Trait	나타나는 빈도
Nemaline bodies	자주 (30–79%)

Trait	나타나는 빈도
Feeding difficulties	가끔 (5–29%)

Trait	나타나는 빈도
Drooping upper eyelid	가끔 (5–29%)

Trait	나타나는 빈도
Elevated blood creatine phosphokinase	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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.

$449부터배송비 무료 · 결과는 6~8주 내 제공