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

Abnormality of limbs

Trait	How often it is seen
Decreased arm strength	Always
Limb muscle weakness	Always
Lower limb muscle weakness	Always
Weak shoulder muscles	Always
Back knee	Often (30–79%)
Dropped arches	Often (30–79%)
Foot drop	Often (30–79%)
Knee contracture	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)
Hip dislocation	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Outward bow-leggedness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Delayed motor skills	Always
Motor delay	Always
Abnormal gait	Often (30–79%)
Abnormally low-pitched voice	Often (30–79%)
Absent reflexes	Often (30–79%)
Decreased reflex response	Often (30–79%)
Twitching	Often (30–79%)
Waddling gait	Often (30–79%)
Decreased muscle movement	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Often (30–79%)
High palate	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Facial diplegia	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Narrow face	Sometimes (5–29%)
Short neck	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)
Nocturnal hypoventilation	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Nemaline bodies	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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