Traits

Traits linked to FLNC

filamin C

The Human Phenotype Ontology links 91 traits to FLNC, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal left ventricular function	Very often (80–99%)
Left ventricular systolic dysfunction	Very often (80–99%)
Stretched and thinned heart muscle	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Cardiac failure	Often (30–79%)
Interstitial cardiac fibrosis	Often (30–79%)
Left atrial enlargement	Often (30–79%)
Pulmonary venous hypertension	Often (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Abnormality of the cardiovascular system	Sometimes (5–29%)
Complete right bundle branch block	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Sometimes (5–29%)
Left bundle branch block	Sometimes (5–29%)
Left ventricular diastolic dysfunction	Sometimes (5–29%)
Left ventricular hypertrophy	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Permanent atrial fibrillation	Sometimes (5–29%)
Prolonged QTc interval	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Supraventricular arrhythmia	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Fainting spell	Rarely (1–4%)
Left anterior fascicular block	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: myopathic abnormalities	Very often (80–99%)
Back pain	Often (30–79%)
Difficulty running	Often (30–79%)
Difficulty walking up stairs	Often (30–79%)
Muscle fiber splitting	Often (30–79%)
EMG abnormality	Sometimes (5–29%)
Fatiguable weakness of proximal limb muscles	Sometimes (5–29%)
Fatty replacement of skeletal muscle	Sometimes (5–29%)
Joint contracture	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Neck flexion weakness	Rarely (1–4%)
Decreased lung function due to weak breathing muscles	Not recorded
Distal lower limb amyotrophy	Not recorded
Muscle degeneration	Not recorded
Muscle weakness	Not recorded
Myofibrillar myopathy	Not recorded
Proximal neurogenic muscle weakness	Not recorded

Abnormality of limbs

Trait	How often it is seen
Hyporeflexia of lower limbs	Very often (80–99%)
Intrinsic hand muscle atrophy	Very often (80–99%)
Proximal lower limb muscle weakness	Very often (80–99%)
Distal lower limb muscle weakness	Often (30–79%)
Finger flexor weakness	Often (30–79%)
Foot drop	Often (30–79%)
Hip flexor weakness	Often (30–79%)
Limited knee flexion	Often (30–79%)
Decreased finger mobility	Sometimes (5–29%)
Distal upper limb muscle weakness	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)
Abnormal calf muscles	Not recorded
Distal upper limb amyotrophy	Not recorded
Thenar muscle weakness	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Inability to walk	Very often (80–99%)
Abnormality of balance	Often (30–79%)
Abnormality of peripheral nervous system electrophysiology	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Abnormal peripheral nervous system structure	Not recorded
Decreased reflex response	Not recorded
Somatic sensory dysfunction	Not recorded
Waddling gait	Not recorded

Laboratory abnormality

Trait	How often it is seen
Mildly elevated creatine kinase	Very often (80–99%)
Fluid retention	Often (30–79%)
Excess fluid in lungs	Sometimes (5–29%)
Peripheral edema	Sometimes (5–29%)
Extremely elevated creatine kinase	Rarely (1–4%)
Elevated blood creatine phosphokinase	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)
Respiratory function loss	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Exercise-induced muscle pain	Very often (80–99%)
Fatigue	Often (30–79%)
Muscle ache	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)
Thromboembolism	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Weakness of facial musculature	Sometimes (5–29%)
Abnormality of masticatory muscle	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Sometimes (5–29%)
Poor swallowing	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Muscle fiber cytoplasmatic inclusion bodies	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	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 FLNC and how often each is seen. Find out more at hpo.jax.org.

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