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

Abnormality of limbs

Trait	Hvor ofte det ses
Decreased arm strength	Altid
Limb muscle weakness	Altid
Lower limb muscle weakness	Altid
Weak shoulder muscles	Altid
Back knee	Ofte (30–79 %)
Dropped arches	Ofte (30–79 %)
Foot drop	Ofte (30–79 %)
Knee contracture	Ofte (30–79 %)
Limb-girdle muscle weakness	Ofte (30–79 %)
Hip dislocation	Nogle gange (5–29 %)
Knock knees	Nogle gange (5–29 %)
Outward bow-leggedness	Nogle gange (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Delayed ability to walk	Altid
Delayed motor skills	Altid
Motor delay	Altid
Abnormal gait	Ofte (30–79 %)
Abnormally low-pitched voice	Ofte (30–79 %)
Absent reflexes	Ofte (30–79 %)
Decreased reflex response	Ofte (30–79 %)
Twitching	Ofte (30–79 %)
Waddling gait	Ofte (30–79 %)
Decreased muscle movement	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Bell's palsy	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Weakness of facial musculature	Ofte (30–79 %)
Facial diplegia	Nogle gange (5–29 %)
Little lower jaw	Nogle gange (5–29 %)
Narrow face	Nogle gange (5–29 %)
Short neck	Nogle gange (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Feet or buttocks of fetus positioned near opening of uterus	Ofte (30–79 %)
High levels of amniotic fluid	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Respiratory function loss	Ofte (30–79 %)
Nocturnal hypoventilation	Nogle gange (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte det ses
Nemaline bodies	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Drooping upper eyelid	Nogle gange (5–29 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Elevated blood creatine phosphokinase	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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