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

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the integument

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

Abnormality of the nervous system

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

Laboratory abnormality

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

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Abnormality of the testis	Çok sık (%80–99)
Decreased fertility	Çok sık (%80–99)
Early menopause	Çok sık (%80–99)
Papillary renal cell carcinoma	Çok sık (%80–99)
Polycystic ovaries	Çok sık (%80–99)
Previous menstrual periods stop	Çok sık (%80–99)
Kidney cancer	Sık (%30–79)
Ovarian cancer	Sık (%30–79)
Small male external genitalia	Sık (%30–79)
Double ureter	Bazen (%5–29)
Glomerulopathy	Bazen (%5–29)
Hypospadias	Bazen (%5–29)
Painful menstruation	Bazen (%5–29)
Labial pseudohypertrophy	Kaydedilmedi

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Abnormal circulating leptin concentration	Çok sık (%80–99)
Decreased activity of gonads	Çok sık (%80–99)
Delayed puberty	Çok sık (%80–99)
Early onset of puberty	Çok sık (%80–99)
Hypergonadotropic hypogonadism	Çok sık (%80–99)
Pubertal developmental failure in females	Çok sık (%80–99)
Pulmonary carcinoid tumor	Çok sık (%80–99)
Decreased adiponectin level	Sık (%30–79)
Decreased serum leptin	Sık (%30–79)
Delayed start of first period	Sık (%30–79)
Female hypogonadism	Sık (%30–79)
Neoplasm of the thyroid gland	Sık (%30–79)
Congenital adrenal hypoplasia	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Enlarged liver	Her zaman
Abnormal intrahepatic bile duct morphology	Çok sık (%80–99)
Prominent belly button	Çok sık (%80–99)
Acid reflux	Sık (%30–79)
Acute pancreatic inflammation	Sık (%30–79)
Feeding difficulties	Sık (%30–79)
Rectum protrudes through anus	Sık (%30–79)
Small intestine tumor	Sık (%30–79)
Microcolon	Bazen (%5–29)
Pancreatic inflammation	Bazen (%5–29)
Tube feeding	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Growth delay	Her zaman
Decreased body weight	Çok sık (%80–99)
Faltering weight	Çok sık (%80–99)
Prenatal growth deficiency	Çok sık (%80–99)
Severe faltering weight	Çok sık (%80–99)
Short stature	Çok sık (%80–99)
Weight loss	Çok sık (%80–99)
Overweight	Sık (%30–79)
Obesity	Bazen (%5–29)
Wasting syndrome	Bazen (%5–29)
Growth delay as children	Kaydedilmedi

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Bulging eye	Her zaman
Abnormal retinal pigmentation	Çok sık (%80–99)
Drooping upper eyelid	Çok sık (%80–99)
Wide-set eyes	Çok sık (%80–99)
Retina degeneration	Sık (%30–79)
Clouding of the lens of the eye	Bazen (%5–29)
Clouding of the lens of the eye at birth	Bazen (%5–29)
Corneal opacity	Bazen (%5–29)
Corneal ulceration	Seyrek (%1–4)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Exertional breathlessness	Her zaman
Emphysema	Çok sık (%80–99)
Poorly developed lungs	Çok sık (%80–99)
Softening of voice box tissue	Çok sık (%80–99)
Breathing difficulties	Sık (%30–79)
Lung cancer	Sık (%30–79)
Orthopnea	Sık (%30–79)
Respiratory function loss	Sık (%30–79)
Upper airway obstruction	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Less than 10 fetal movements in 12 hours	Çok sık (%80–99)
Premature birth	Çok sık (%80–99)
Premature delivery because of cervical insufficiency or membrane fragility	Çok sık (%80–99)
Short umbilical cord	Çok sık (%80–99)
Small placenta	Çok sık (%80–99)
Fetal distress	Sık (%30–79)
High levels of amniotic fluid	Bazen (%5–29)
Large placenta	Bazen (%5–29)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Small ears	Her zaman
Conductive deafness	Çok sık (%80–99)
Low-set ears	Çok sık (%80–99)
Low-frequency sensorineural hearing impairment	Sık (%30–79)
Hearing impairment	Bazen (%5–29)
High-frequency sensorineural hearing impairment	Bazen (%5–29)
Prominent ear helix	Bazen (%5–29)
Sensorineural hearing impairment	Bazen (%5–29)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Exercise-induced muscle pain	Her zaman
Fatigue	Her zaman
Hip pain	Bazen (%5–29)
Joint pain	Bazen (%5–29)
Muscle ache	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Bleeding within the skull	Çok sık (%80–99)
Elevated hemoglobin A1c	Sık (%30–79)
Thromboembolic stroke	Bazen (%5–29)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Abnormal cellular phenotype	Çok sık (%80–99)
Abnormal lymphocyte physiology	Bazen (%5–29)

Abnormality of the breast

Trait	Ne sıklıkla görüldüğü
Breast tumor	Sık (%30–79)
Absent breast	Bazen (%5–29)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Abnormality of complement system	Bazen (%5–29)

Abnormality of the voice

Trait	Ne sıklıkla görüldüğü
Abnormality of the voice	Çok sık (%80–99)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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