Traits

Traits linked to LMNA

lamin A/C

The Human Phenotype Ontology links 501 traits to LMNA, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Axial muscle weakness	항상
Calcium buildup in soft tissues of body	항상
Difficulty running	항상
Difficulty walking up stairs	항상
Diffuse skeletal muscle wasting	항상
Frequent falls	항상
Gowers sign	항상
Inability to make and keep healthy fat tissue	항상
Increased skeletal muscle cells	항상
Joint contracture	항상
Joint stiffness	항상
Loss of fat tissue below the skin in limbs	항상
Low muscle tone	항상
Multiple shoulder dislocation	항상
Muscle fiber degeneration	항상
Muscle tissue disease	항상
Muscular dystrophy	항상
Osteopenia	항상
Permanent flexion of the finger or toe	항상
Poor head control	항상
Proximal neurogenic muscle weakness	항상
Reduced spine movement	항상
Rounded shoulders	항상
Short collarbone	항상
Weakness of outermost muscles	항상
Abnormality of the chest	매우 자주 (80–99%)
Absent fat below the skin	매우 자주 (80–99%)
Absent/small collarbone	매우 자주 (80–99%)
Arthrogryposis multiplex congenita	매우 자주 (80–99%)
Bone cell cancer	매우 자주 (80–99%)
Breakdown of bone	매우 자주 (80–99%)
Calcium deposits in joints	매우 자주 (80–99%)
Elbow contracture	매우 자주 (80–99%)
EMG: axonal abnormality	매우 자주 (80–99%)
Funnel chest	매우 자주 (80–99%)
Generalized lipodystrophy	매우 자주 (80–99%)
Increased anterioposterior diameter of thorax	매우 자주 (80–99%)
Increased bone density in hand bone	매우 자주 (80–99%)
Limitation of joint mobility	매우 자주 (80–99%)
Loss of fat tissue in localized area	매우 자주 (80–99%)
Loss of fat tissue in trunk	매우 자주 (80–99%)
Low solidness and mass of the bones	매우 자주 (80–99%)
Multiple joint contractures	매우 자주 (80–99%)
Muscle degeneration	매우 자주 (80–99%)
Myotonia	매우 자주 (80–99%)
Neck muscle weakness	매우 자주 (80–99%)
Osteoporosis	매우 자주 (80–99%)
Progressive clavicular acroosteolysis	매우 자주 (80–99%)
Thin collarbone	매우 자주 (80–99%)
Thin ribs	매우 자주 (80–99%)
Absent muscle fiber emerin	자주 (30–79%)
Back pain	자주 (30–79%)
Decreased lung function due to weak breathing muscles	자주 (30–79%)
Distal muscle wasting	자주 (30–79%)
EMG abnormality	자주 (30–79%)
EMG: myopathic abnormalities	자주 (30–79%)
Flexed joint that cannot be straightened	자주 (30–79%)
High shoulder blade	자주 (30–79%)
Inability to touch chin to chest	자주 (30–79%)
Increased intraabdominal fat	자주 (30–79%)
Intervertebral disk degeneration	자주 (30–79%)
Overtubulated long bones	자주 (30–79%)
Prominent swayback	자주 (30–79%)
Rimmed vacuoles	자주 (30–79%)
Scapuloperoneal amyotrophy	자주 (30–79%)
Scoliosis	자주 (30–79%)
Type 1 muscle fiber atrophy	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Abnormality of skeletal muscle fiber size	가끔 (5–29%)
Bacterial infection of skin	가끔 (5–29%)
Death of bone due to decreased blood supply	가끔 (5–29%)
Degenerative joint disease	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Ectopic calcification	가끔 (5–29%)
Hamstring contractures	가끔 (5–29%)
Hunched back	가끔 (5–29%)
Increased bone mineral density	가끔 (5–29%)
Limited hip movement	가끔 (5–29%)
Limited shoulder movement	가끔 (5–29%)
Lower limb amyotrophy	가끔 (5–29%)
Muscular abnormality	가끔 (5–29%)
Narrow chest	가끔 (5–29%)
Thoracic kyphoscoliosis	가끔 (5–29%)
Wasting of muscles near the body	가끔 (5–29%)
Thoracic kyphosis	드물게 (1–4%)
Distal lower limb amyotrophy	기록되지 않음
Generalized osteoporosis	기록되지 않음
Increased intramuscular fat	기록되지 않음
Kyphoscoliosis	기록되지 않음
Loss of fat tissue	기록되지 않음
Muscle weakness	기록되지 않음

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Abnormal heart rate	항상
Disease of the heart muscle	항상
Fainting spell	항상
First degree atrioventricular block	항상
Increased spleen size	항상
Interstitial cardiac fibrosis	항상
Left anterior fascicular block	항상
Mitral regurgitation	항상
Reduced left ventricular ejection fraction	항상
Telangiectasia of the skin	항상
Ventricular arrhythmia	항상
Abnormal atrioventricular conduction	매우 자주 (80–99%)
Abnormal electrophysiology of sinoatrial node origin	매우 자주 (80–99%)
Abnormality of lung artery	매우 자주 (80–99%)
Abnormality of the cerebral blood vessels	매우 자주 (80–99%)
Abnormality of the vasculature	매우 자주 (80–99%)
Aortic atherosclerotic lesion	매우 자주 (80–99%)
Aortic valve calcification	매우 자주 (80–99%)
Bulge in wall of root of large artery that carries blood away from heart	매우 자주 (80–99%)
Cardiac conduction abnormality	매우 자주 (80–99%)
Cardiac failure	매우 자주 (80–99%)
High blood pressure	매우 자주 (80–99%)
Left ventricular systolic dysfunction	매우 자주 (80–99%)
Mitral valve calcification	매우 자주 (80–99%)
Narrowing of aortic valve	매우 자주 (80–99%)
Patent ductus arteriosus	매우 자주 (80–99%)
Peripheral arterial stenosis	매우 자주 (80–99%)
Plaque build-up in arteries supplying blood to heart	매우 자주 (80–99%)
Premature hardening of arteries	매우 자주 (80–99%)
Prominent superficial blood vessels	매우 자주 (80–99%)
Prominent veins	매우 자주 (80–99%)
Stretched and thinned heart muscle	매우 자주 (80–99%)
Supraventricular arrhythmia	매우 자주 (80–99%)
Ventricular hypertrophy	매우 자주 (80–99%)
Abnormal aortic valve morphology	자주 (30–79%)
Abnormal left ventricular function	자주 (30–79%)
Abnormal mitral valve morphology	자주 (30–79%)
Abnormal myocardium morphology	자주 (30–79%)
Accelerated plaque build-up in arteries	자주 (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	자주 (30–79%)
Left ventricular diastolic dysfunction	자주 (30–79%)
Narrowing and hardening of arteries	자주 (30–79%)
Premature plaque build-up in arteries	자주 (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	자주 (30–79%)
Sudden cardiac death	자주 (30–79%)
Ventricular escape rhythm	자주 (30–79%)
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
Aortic regurgitation	가끔 (5–29%)
Atrial flutter	가끔 (5–29%)
Bulging of wall of large artery located above heart	가끔 (5–29%)
Complete heart block	가끔 (5–29%)
Enlarged and thickened heart muscle	가끔 (5–29%)
Fluid around heart	가끔 (5–29%)
Heart attack	가끔 (5–29%)
Heart block	가끔 (5–29%)
Heart tip and four chambers point towards right side of body	가끔 (5–29%)
Mini stroke	가끔 (5–29%)
Mitral stenosis	가끔 (5–29%)
Mitral valve prolapse	가끔 (5–29%)
Obstructed carotid artery	가끔 (5–29%)
Paroxysmal atrial fibrillation	가끔 (5–29%)
Paroxysmal atrial tachycardia	가끔 (5–29%)
Premature coronary artery disease	가끔 (5–29%)
Prolonged QT interval	가끔 (5–29%)
Raynaud phenomenon	가끔 (5–29%)
Second degree atrioventricular block	가끔 (5–29%)
Sinoatrial block	가끔 (5–29%)
Sinus bradycardia	가끔 (5–29%)
Stroke	가끔 (5–29%)
Supraventricular tachycardia	가끔 (5–29%)
Transposition of the great arteries	가끔 (5–29%)
Ventricular tachycardia	가끔 (5–29%)
Angina pectoris	드물게 (1–4%)
Increased blood pressure in blood vessels of lungs	드물게 (1–4%)

Abnormality of head or neck

Trait	나타나는 빈도
Beaked nose	항상
Delayed cranial suture closure	항상
Dental crowding	항상
Extra bones within cranial sutures	항상
Full cheeks	항상
Increased amount of facial fat	항상
Little lower jaw	항상
Narrow nose	항상
Short chin	항상
Absent eyebrow	매우 자주 (80–99%)
Absent eyelashes	매우 자주 (80–99%)
Adhesion of the temporomandibular joint	매우 자주 (80–99%)
Corners of eye widely separated	매우 자주 (80–99%)
Decreased bone formation of skull	매우 자주 (80–99%)
Decreased nasal size	매우 자주 (80–99%)
Decreased volume of lip	매우 자주 (80–99%)
Downward slanting of the opening between the eyelids	매우 자주 (80–99%)
Eyelid folded in	매우 자주 (80–99%)
Narrow face	매우 자주 (80–99%)
Narrow mouth	매우 자주 (80–99%)
Narrow nasal ridge	매우 자주 (80–99%)
Round face	매우 자주 (80–99%)
Short opening between the eyelids	매우 자주 (80–99%)
Sparse eyebrow	매우 자주 (80–99%)
Sparse or absent eyebrows	매우 자주 (80–99%)
Sparse or absent eyelashes	매우 자주 (80–99%)
Stiff neck	매우 자주 (80–99%)
Submucous cleft hard palate	매우 자주 (80–99%)
Wide fontanelles	매우 자주 (80–99%)
Wide nasal bridge	매우 자주 (80–99%)
Widely patent fontanelles and sutures	매우 자주 (80–99%)
Abnormality of the eyebrow	자주 (30–79%)
Abnormality of the nasal tip	자주 (30–79%)
Craniofacial disproportion	자주 (30–79%)
Decreased depth of eye sockets	자주 (30–79%)
Decreased size of facial bones	자주 (30–79%)
Early eruption of teeth	자주 (30–79%)
High palate	자주 (30–79%)
Increased fat around the neck	자주 (30–79%)
Mouth tumor	자주 (30–79%)
Narrow nasal tip	자주 (30–79%)
Receding chin	자주 (30–79%)
Relatively large head	자주 (30–79%)
Short lingual frenulum	자주 (30–79%)
Small retruded chin	자주 (30–79%)
Tongue tied	자주 (30–79%)
Abnormal dentition	가끔 (5–29%)
Blockage of the rear opening of the nasal cavity	가끔 (5–29%)
Born with teeth	가끔 (5–29%)
Delayed eruption of teeth	가끔 (5–29%)
Delayed loss of baby teeth	가끔 (5–29%)
Eyelids stay open at night	가끔 (5–29%)
Failure of development of between one and six teeth	가끔 (5–29%)
Impacted tooth	가끔 (5–29%)
Loss of eyelashes	가끔 (5–29%)
Webbed neck	가끔 (5–29%)
Bird-like facial appearance	기록되지 않음
Decreased size of teeth	기록되지 않음
Early tooth loss	기록되지 않음
Midface retrusion	기록되지 않음
Restricted neck mobility due to contractures	기록되지 않음
Sparse scalp hair	기록되지 않음
Zygomatic flattening	기록되지 않음

Abnormality of limbs

Trait	나타나는 빈도
Acroosteolysis of distal phalanges (feet)	항상
Coxa valga	항상
Decreased arm strength	항상
Elbow flexion contracture	항상
Finger joint contracture	항상
Foot drop	항상
Limb-girdle muscle weakness	항상
Peroneal muscle atrophy	항상
Peroneal muscle weakness	항상
Short outermost finger bone	항상
Abnormal feet structure	매우 자주 (80–99%)
Abnormality of the Achilles tendon	매우 자주 (80–99%)
Absent digital bone of the 3rd toe	매우 자주 (80–99%)
Breakdown of small bones of fingers	매우 자주 (80–99%)
Distal lower limb muscle weakness	매우 자주 (80–99%)
Dropped arches	매우 자주 (80–99%)
Hyporeflexia of lower limbs	매우 자주 (80–99%)
Increased size of calf muscles	매우 자주 (80–99%)
Limb-girdle muscular dystrophy	매우 자주 (80–99%)
Osteolytic defects of the distal phalanges of the hand	매우 자주 (80–99%)
Proximal upper limb muscle weakness	매우 자주 (80–99%)
Rocker bottom foot	매우 자주 (80–99%)
Short palm	매우 자주 (80–99%)
Shortening of the achilles tendon	매우 자주 (80–99%)
Structural foot deformity	매우 자주 (80–99%)
Distal upper limb amyotrophy	자주 (30–79%)
Distal upper limb muscle weakness	자주 (30–79%)
Hammertoe	자주 (30–79%)
Hand muscle degeneration	자주 (30–79%)
Hand muscle weakness	자주 (30–79%)
High-arched foot	자주 (30–79%)
Hip contracture	자주 (30–79%)
Hip dislocation	자주 (30–79%)
Muscle hypertrophy of the lower extremities	자주 (30–79%)
Proximal lower limb muscle weakness	자주 (30–79%)
Proximal upper limb amyotrophy	자주 (30–79%)
Proximal upper limb muscle hypertrophy	자주 (30–79%)
Short fingers or toes	자주 (30–79%)
Toe extensor amyotrophy	자주 (30–79%)
Wasting of thigh muscle	자주 (30–79%)
Winged shoulder blade	자주 (30–79%)
Calf muscle pseudohypertrophy	가끔 (5–29%)
Club feet	가끔 (5–29%)
Curvature of finger	가끔 (5–29%)
Knee contracture	가끔 (5–29%)
Limitation of movement at ankles	가끔 (5–29%)
Limited wrist movement	가끔 (5–29%)
Pelvic girdle muscle atrophy	가끔 (5–29%)
Permanent flexion of the finger	가끔 (5–29%)
Scapular muscle atrophy	가끔 (5–29%)
Shoulder girdle muscle wasting	가끔 (5–29%)
Talipes	가끔 (5–29%)
Upper limb amyotrophy	가끔 (5–29%)
Wrist flexion contracture	가끔 (5–29%)
Absent middle bones of hand	기록되지 않음
Curvature of digit	기록되지 않음
Limb muscle weakness	기록되지 않음
Webbed fingers or toes	기록되지 않음

Abnormality of the integument

Trait	나타나는 빈도
Darkened and thickened skin	항상
Poikiloderma	항상
Poor wound healing	항상
Reduced fat tissue below the skin	항상
Sclerodactyly	항상
Stiff skin	항상
Thick nail	항상
Thickened skin	항상
Yellow bumps of fatty deposits on skin	항상
Abnormal hair quantity	매우 자주 (80–99%)
Abnormal hair whorl	매우 자주 (80–99%)
Abnormality of the hair	매우 자주 (80–99%)
Absent/small skin	매우 자주 (80–99%)
Alopecia universalis	매우 자주 (80–99%)
Aplasia/Hypoplasia of the eccrine sweat glands	매우 자주 (80–99%)
Basal cell carcinoma	매우 자주 (80–99%)
Brittle nails	매우 자주 (80–99%)
Dermal translucency	매우 자주 (80–99%)
Flattened and twisted hair	매우 자주 (80–99%)
Generalized abnormality of skin	매우 자주 (80–99%)
Generalized hyperkeratosis	매우 자주 (80–99%)
Hair loss	매우 자주 (80–99%)
Hyperkeratosis	매우 자주 (80–99%)
Minimal fat below the skin	매우 자주 (80–99%)
Open skin sore	매우 자주 (80–99%)
Patchy hypo- and hyperpigmentation	매우 자주 (80–99%)
Premature aged appearance	매우 자주 (80–99%)
Premature graying of hair	매우 자주 (80–99%)
Premature skin wrinkling	매우 자주 (80–99%)
Prematurely aged appearance	매우 자주 (80–99%)
Scaling skin	매우 자주 (80–99%)
Scleroderma	매우 자주 (80–99%)
Skin calcification	매우 자주 (80–99%)
Skin degeneration	매우 자주 (80–99%)
Skin erosion	매우 자주 (80–99%)
Sparse body hair	매우 자주 (80–99%)
Sparse hair	매우 자주 (80–99%)
Squamous cell carcinoma of the skin	매우 자주 (80–99%)
Thin skin	매우 자주 (80–99%)
Tight skin	매우 자주 (80–99%)
White part of hair above forehead	매우 자주 (80–99%)
Abnormality of the nail	자주 (30–79%)
Alopecia totalis	자주 (30–79%)
Blue discoloration of the skin	자주 (30–79%)
Patchy baldness	자주 (30–79%)
Poor fingernail formation	자주 (30–79%)
Poor toenail formation	자주 (30–79%)
Skin cancer	자주 (30–79%)
Excessive hairiness over body	가끔 (5–29%)
Hyperpigmented skin patches	가끔 (5–29%)
Ichthyosis	가끔 (5–29%)
Papule	가끔 (5–29%)
Patchy darkened skin	가끔 (5–29%)
Short nail	가끔 (5–29%)
Excessive hairiness	기록되지 않음
Mottled skin coloring	기록되지 않음

Abnormality of the nervous system

Trait	나타나는 빈도
Abnormal gait	항상
Constrictive median neuropathy	항상
Delayed ability to roll over	항상
Delayed ability to walk	항상
Loss of ability to walk	항상
Waddling gait	항상
Axonal degeneration	매우 자주 (80–99%)
Axonal loss	매우 자주 (80–99%)
Decreased amplitude of sensory action potentials	매우 자주 (80–99%)
Decreased number of peripheral myelinated nerve fibers	매우 자주 (80–99%)
Decreased sensation in extremities	매우 자주 (80–99%)
Diminished deep tendon reflex	매우 자주 (80–99%)
Motor axonal neuropathy	매우 자주 (80–99%)
Sensory axonal neuropathy	매우 자주 (80–99%)
Absent reflexes	자주 (30–79%)
Decreased number of large peripheral myelinated nerve fibers	자주 (30–79%)
Global developmental delay	자주 (30–79%)
High pitched voice	자주 (30–79%)
High stepping	자주 (30–79%)
Noncancerous growth of membranes covering brain	자주 (30–79%)
Shuffled walk	자주 (30–79%)
Toe walking	자주 (30–79%)
Cranial nerve paralysis	가끔 (5–29%)
Decreased number of small peripheral myelinated nerve fibers	가끔 (5–29%)
Inability to walk	가끔 (5–29%)
Intellectual disability	가끔 (5–29%)
Decreased motor nerve conduction velocity	드물게 (1–4%)
Inability to move vocal cords	드물게 (1–4%)
Axonal degeneration/regeneration	기록되지 않음
Clusters of axonal regeneration	기록되지 않음
Decreased reflex response	기록되지 않음
Enlarged peripheral nerve	기록되지 않음
Motor delay	기록되지 않음
Onion bulb formation	기록되지 않음
Peripheral axonal atrophy	기록되지 않음

Laboratory abnormality

Trait	나타나는 빈도
Body fails to respond to insulin	항상
Elevated blood creatine phosphokinase	항상
Elevated serum cholesterol	항상
Glucose intolerance	항상
Impaired glucose tolerance	항상
Insulin resistant diabetes	항상
Diabetes mellitus	매우 자주 (80–99%)
Fatty infiltration of liver	매우 자주 (80–99%)
Glucose in urine	매우 자주 (80–99%)
High blood insulin levels while fasting	매우 자주 (80–99%)
High blood sugar	매우 자주 (80–99%)
Hyperinsulinemia	매우 자주 (80–99%)
Increased plasma triglycerides	매우 자주 (80–99%)
Noninsulin-dependent diabetes	매우 자주 (80–99%)
Albuminuria	자주 (30–79%)
Decreased circulating high-density lipoprotein cholesterol	자주 (30–79%)
Elevated circulating alanine aminotransferase concentration	자주 (30–79%)
Elevated circulating aspartate aminotransferase concentration	자주 (30–79%)
Elevated circulating C-reactive protein concentration	자주 (30–79%)
Elevated circulating NT-proBNP concentration	자주 (30–79%)
Elevated lipids in blood	자주 (30–79%)
Fluid retention	자주 (30–79%)
High blood uric acid level	자주 (30–79%)
Highly elevated creatine kinase	자주 (30–79%)
Increased circulating free fatty acid level	자주 (30–79%)
Increased circulating LDL level	자주 (30–79%)
Mildly elevated creatine kinase	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Abnormality of the testis	매우 자주 (80–99%)
Decreased fertility	매우 자주 (80–99%)
Early menopause	매우 자주 (80–99%)
Papillary renal cell carcinoma	매우 자주 (80–99%)
Polycystic ovaries	매우 자주 (80–99%)
Previous menstrual periods stop	매우 자주 (80–99%)
Kidney cancer	자주 (30–79%)
Ovarian cancer	자주 (30–79%)
Small male external genitalia	자주 (30–79%)
Double ureter	가끔 (5–29%)
Glomerulopathy	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Painful menstruation	가끔 (5–29%)
Labial pseudohypertrophy	기록되지 않음

Abnormality of the endocrine system

Trait	나타나는 빈도
Abnormal circulating leptin concentration	매우 자주 (80–99%)
Decreased activity of gonads	매우 자주 (80–99%)
Delayed puberty	매우 자주 (80–99%)
Early onset of puberty	매우 자주 (80–99%)
Hypergonadotropic hypogonadism	매우 자주 (80–99%)
Pubertal developmental failure in females	매우 자주 (80–99%)
Pulmonary carcinoid tumor	매우 자주 (80–99%)
Decreased adiponectin level	자주 (30–79%)
Decreased serum leptin	자주 (30–79%)
Delayed start of first period	자주 (30–79%)
Female hypogonadism	자주 (30–79%)
Neoplasm of the thyroid gland	자주 (30–79%)
Congenital adrenal hypoplasia	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Enlarged liver	항상
Abnormal intrahepatic bile duct morphology	매우 자주 (80–99%)
Prominent belly button	매우 자주 (80–99%)
Acid reflux	자주 (30–79%)
Acute pancreatic inflammation	자주 (30–79%)
Feeding difficulties	자주 (30–79%)
Rectum protrudes through anus	자주 (30–79%)
Small intestine tumor	자주 (30–79%)
Microcolon	가끔 (5–29%)
Pancreatic inflammation	가끔 (5–29%)
Tube feeding	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Growth delay	항상
Decreased body weight	매우 자주 (80–99%)
Faltering weight	매우 자주 (80–99%)
Prenatal growth deficiency	매우 자주 (80–99%)
Severe faltering weight	매우 자주 (80–99%)
Short stature	매우 자주 (80–99%)
Weight loss	매우 자주 (80–99%)
Overweight	자주 (30–79%)
Obesity	가끔 (5–29%)
Wasting syndrome	가끔 (5–29%)
Growth delay as children	기록되지 않음

Abnormality of the eye

Trait	나타나는 빈도
Bulging eye	항상
Abnormal retinal pigmentation	매우 자주 (80–99%)
Drooping upper eyelid	매우 자주 (80–99%)
Wide-set eyes	매우 자주 (80–99%)
Retina degeneration	자주 (30–79%)
Clouding of the lens of the eye	가끔 (5–29%)
Clouding of the lens of the eye at birth	가끔 (5–29%)
Corneal opacity	가끔 (5–29%)
Corneal ulceration	드물게 (1–4%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Exertional breathlessness	항상
Emphysema	매우 자주 (80–99%)
Poorly developed lungs	매우 자주 (80–99%)
Softening of voice box tissue	매우 자주 (80–99%)
Breathing difficulties	자주 (30–79%)
Lung cancer	자주 (30–79%)
Orthopnea	자주 (30–79%)
Respiratory function loss	자주 (30–79%)
Upper airway obstruction	가끔 (5–29%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Less than 10 fetal movements in 12 hours	매우 자주 (80–99%)
Premature birth	매우 자주 (80–99%)
Premature delivery because of cervical insufficiency or membrane fragility	매우 자주 (80–99%)
Short umbilical cord	매우 자주 (80–99%)
Small placenta	매우 자주 (80–99%)
Fetal distress	자주 (30–79%)
High levels of amniotic fluid	가끔 (5–29%)
Large placenta	가끔 (5–29%)

Abnormality of the ear

Trait	나타나는 빈도
Small ears	항상
Conductive deafness	매우 자주 (80–99%)
Low-set ears	매우 자주 (80–99%)
Low-frequency sensorineural hearing impairment	자주 (30–79%)
Hearing impairment	가끔 (5–29%)
High-frequency sensorineural hearing impairment	가끔 (5–29%)
Prominent ear helix	가끔 (5–29%)
Sensorineural hearing impairment	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Exercise-induced muscle pain	항상
Fatigue	항상
Hip pain	가끔 (5–29%)
Joint pain	가끔 (5–29%)
Muscle ache	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Bleeding within the skull	매우 자주 (80–99%)
Elevated hemoglobin A1c	자주 (30–79%)
Thromboembolic stroke	가끔 (5–29%)

Abnormal cellular phenotype

Trait	나타나는 빈도
Abnormal cellular phenotype	매우 자주 (80–99%)
Abnormal lymphocyte physiology	가끔 (5–29%)

Abnormality of the breast

Trait	나타나는 빈도
Breast tumor	자주 (30–79%)
Absent breast	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Abnormality of complement system	가끔 (5–29%)

Abnormality of the voice

Trait	나타나는 빈도
Abnormality of the voice	매우 자주 (80–99%)

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.

출처

The Human Phenotype Ontology, release 2026-09-01: the traits linked to LMNA and how often each is seen. Find out more at hpo.jax.org.

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