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

Abnormality of the cardiovascular system

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

Abnormality of head or neck

Trait	How often it is seen
Beaked nose	Always
Delayed cranial suture closure	Always
Dental crowding	Always
Extra bones within cranial sutures	Always
Full cheeks	Always
Increased amount of facial fat	Always
Little lower jaw	Always
Narrow nose	Always
Short chin	Always
Absent eyebrow	Very often (80–99%)
Absent eyelashes	Very often (80–99%)
Adhesion of the temporomandibular joint	Very often (80–99%)
Corners of eye widely separated	Very often (80–99%)
Decreased bone formation of skull	Very often (80–99%)
Decreased nasal size	Very often (80–99%)
Decreased volume of lip	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Eyelid folded in	Very often (80–99%)
Narrow face	Very often (80–99%)
Narrow mouth	Very often (80–99%)
Narrow nasal ridge	Very often (80–99%)
Round face	Very often (80–99%)
Short opening between the eyelids	Very often (80–99%)
Sparse eyebrow	Very often (80–99%)
Sparse or absent eyebrows	Very often (80–99%)
Sparse or absent eyelashes	Very often (80–99%)
Stiff neck	Very often (80–99%)
Submucous cleft hard palate	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Widely patent fontanelles and sutures	Very often (80–99%)
Abnormality of the eyebrow	Often (30–79%)
Abnormality of the nasal tip	Often (30–79%)
Craniofacial disproportion	Often (30–79%)
Decreased depth of eye sockets	Often (30–79%)
Decreased size of facial bones	Often (30–79%)
Early eruption of teeth	Often (30–79%)
High palate	Often (30–79%)
Increased fat around the neck	Often (30–79%)
Mouth tumor	Often (30–79%)
Narrow nasal tip	Often (30–79%)
Receding chin	Often (30–79%)
Relatively large head	Often (30–79%)
Short lingual frenulum	Often (30–79%)
Small retruded chin	Often (30–79%)
Tongue tied	Often (30–79%)
Abnormal dentition	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Born with teeth	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Delayed loss of baby teeth	Sometimes (5–29%)
Eyelids stay open at night	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
Impacted tooth	Sometimes (5–29%)
Loss of eyelashes	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)
Bird-like facial appearance	Not recorded
Decreased size of teeth	Not recorded
Early tooth loss	Not recorded
Midface retrusion	Not recorded
Restricted neck mobility due to contractures	Not recorded
Sparse scalp hair	Not recorded
Zygomatic flattening	Not recorded

Abnormality of limbs

Trait	How often it is seen
Acroosteolysis of distal phalanges (feet)	Always
Coxa valga	Always
Decreased arm strength	Always
Elbow flexion contracture	Always
Finger joint contracture	Always
Foot drop	Always
Limb-girdle muscle weakness	Always
Peroneal muscle atrophy	Always
Peroneal muscle weakness	Always
Short outermost finger bone	Always
Abnormal feet structure	Very often (80–99%)
Abnormality of the Achilles tendon	Very often (80–99%)
Absent digital bone of the 3rd toe	Very often (80–99%)
Breakdown of small bones of fingers	Very often (80–99%)
Distal lower limb muscle weakness	Very often (80–99%)
Dropped arches	Very often (80–99%)
Hyporeflexia of lower limbs	Very often (80–99%)
Increased size of calf muscles	Very often (80–99%)
Limb-girdle muscular dystrophy	Very often (80–99%)
Osteolytic defects of the distal phalanges of the hand	Very often (80–99%)
Proximal upper limb muscle weakness	Very often (80–99%)
Rocker bottom foot	Very often (80–99%)
Short palm	Very often (80–99%)
Shortening of the achilles tendon	Very often (80–99%)
Structural foot deformity	Very often (80–99%)
Distal upper limb amyotrophy	Often (30–79%)
Distal upper limb muscle weakness	Often (30–79%)
Hammertoe	Often (30–79%)
Hand muscle degeneration	Often (30–79%)
Hand muscle weakness	Often (30–79%)
High-arched foot	Often (30–79%)
Hip contracture	Often (30–79%)
Hip dislocation	Often (30–79%)
Muscle hypertrophy of the lower extremities	Often (30–79%)
Proximal lower limb muscle weakness	Often (30–79%)
Proximal upper limb amyotrophy	Often (30–79%)
Proximal upper limb muscle hypertrophy	Often (30–79%)
Short fingers or toes	Often (30–79%)
Toe extensor amyotrophy	Often (30–79%)
Wasting of thigh muscle	Often (30–79%)
Winged shoulder blade	Often (30–79%)
Calf muscle pseudohypertrophy	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Curvature of finger	Sometimes (5–29%)
Knee contracture	Sometimes (5–29%)
Limitation of movement at ankles	Sometimes (5–29%)
Limited wrist movement	Sometimes (5–29%)
Pelvic girdle muscle atrophy	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Scapular muscle atrophy	Sometimes (5–29%)
Shoulder girdle muscle wasting	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Upper limb amyotrophy	Sometimes (5–29%)
Wrist flexion contracture	Sometimes (5–29%)
Absent middle bones of hand	Not recorded
Curvature of digit	Not recorded
Limb muscle weakness	Not recorded
Webbed fingers or toes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Always
Poikiloderma	Always
Poor wound healing	Always
Reduced fat tissue below the skin	Always
Sclerodactyly	Always
Stiff skin	Always
Thick nail	Always
Thickened skin	Always
Yellow bumps of fatty deposits on skin	Always
Abnormal hair quantity	Very often (80–99%)
Abnormal hair whorl	Very often (80–99%)
Abnormality of the hair	Very often (80–99%)
Absent/small skin	Very often (80–99%)
Alopecia universalis	Very often (80–99%)
Aplasia/Hypoplasia of the eccrine sweat glands	Very often (80–99%)
Basal cell carcinoma	Very often (80–99%)
Brittle nails	Very often (80–99%)
Dermal translucency	Very often (80–99%)
Flattened and twisted hair	Very often (80–99%)
Generalized abnormality of skin	Very often (80–99%)
Generalized hyperkeratosis	Very often (80–99%)
Hair loss	Very often (80–99%)
Hyperkeratosis	Very often (80–99%)
Minimal fat below the skin	Very often (80–99%)
Open skin sore	Very often (80–99%)
Patchy hypo- and hyperpigmentation	Very often (80–99%)
Premature aged appearance	Very often (80–99%)
Premature graying of hair	Very often (80–99%)
Premature skin wrinkling	Very often (80–99%)
Prematurely aged appearance	Very often (80–99%)
Scaling skin	Very often (80–99%)
Scleroderma	Very often (80–99%)
Skin calcification	Very often (80–99%)
Skin degeneration	Very often (80–99%)
Skin erosion	Very often (80–99%)
Sparse body hair	Very often (80–99%)
Sparse hair	Very often (80–99%)
Squamous cell carcinoma of the skin	Very often (80–99%)
Thin skin	Very often (80–99%)
Tight skin	Very often (80–99%)
White part of hair above forehead	Very often (80–99%)
Abnormality of the nail	Often (30–79%)
Alopecia totalis	Often (30–79%)
Blue discoloration of the skin	Often (30–79%)
Patchy baldness	Often (30–79%)
Poor fingernail formation	Often (30–79%)
Poor toenail formation	Often (30–79%)
Skin cancer	Often (30–79%)
Excessive hairiness over body	Sometimes (5–29%)
Hyperpigmented skin patches	Sometimes (5–29%)
Ichthyosis	Sometimes (5–29%)
Papule	Sometimes (5–29%)
Patchy darkened skin	Sometimes (5–29%)
Short nail	Sometimes (5–29%)
Excessive hairiness	Not recorded
Mottled skin coloring	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Constrictive median neuropathy	Always
Delayed ability to roll over	Always
Delayed ability to walk	Always
Loss of ability to walk	Always
Waddling gait	Always
Axonal degeneration	Very often (80–99%)
Axonal loss	Very often (80–99%)
Decreased amplitude of sensory action potentials	Very often (80–99%)
Decreased number of peripheral myelinated nerve fibers	Very often (80–99%)
Decreased sensation in extremities	Very often (80–99%)
Diminished deep tendon reflex	Very often (80–99%)
Motor axonal neuropathy	Very often (80–99%)
Sensory axonal neuropathy	Very often (80–99%)
Absent reflexes	Often (30–79%)
Decreased number of large peripheral myelinated nerve fibers	Often (30–79%)
Global developmental delay	Often (30–79%)
High pitched voice	Often (30–79%)
High stepping	Often (30–79%)
Noncancerous growth of membranes covering brain	Often (30–79%)
Shuffled walk	Often (30–79%)
Toe walking	Often (30–79%)
Cranial nerve paralysis	Sometimes (5–29%)
Decreased number of small peripheral myelinated nerve fibers	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Decreased motor nerve conduction velocity	Rarely (1–4%)
Inability to move vocal cords	Rarely (1–4%)
Axonal degeneration/regeneration	Not recorded
Clusters of axonal regeneration	Not recorded
Decreased reflex response	Not recorded
Enlarged peripheral nerve	Not recorded
Motor delay	Not recorded
Onion bulb formation	Not recorded
Peripheral axonal atrophy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Body fails to respond to insulin	Always
Elevated blood creatine phosphokinase	Always
Elevated serum cholesterol	Always
Glucose intolerance	Always
Impaired glucose tolerance	Always
Insulin resistant diabetes	Always
Diabetes mellitus	Very often (80–99%)
Fatty infiltration of liver	Very often (80–99%)
Glucose in urine	Very often (80–99%)
High blood insulin levels while fasting	Very often (80–99%)
High blood sugar	Very often (80–99%)
Hyperinsulinemia	Very often (80–99%)
Increased plasma triglycerides	Very often (80–99%)
Noninsulin-dependent diabetes	Very often (80–99%)
Albuminuria	Often (30–79%)
Decreased circulating high-density lipoprotein cholesterol	Often (30–79%)
Elevated circulating alanine aminotransferase concentration	Often (30–79%)
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
Elevated circulating C-reactive protein concentration	Often (30–79%)
Elevated circulating NT-proBNP concentration	Often (30–79%)
Elevated lipids in blood	Often (30–79%)
Fluid retention	Often (30–79%)
High blood uric acid level	Often (30–79%)
Highly elevated creatine kinase	Often (30–79%)
Increased circulating free fatty acid level	Often (30–79%)
Increased circulating LDL level	Often (30–79%)
Mildly elevated creatine kinase	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the testis	Very often (80–99%)
Decreased fertility	Very often (80–99%)
Early menopause	Very often (80–99%)
Papillary renal cell carcinoma	Very often (80–99%)
Polycystic ovaries	Very often (80–99%)
Previous menstrual periods stop	Very often (80–99%)
Kidney cancer	Often (30–79%)
Ovarian cancer	Often (30–79%)
Small male external genitalia	Often (30–79%)
Double ureter	Sometimes (5–29%)
Glomerulopathy	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Painful menstruation	Sometimes (5–29%)
Labial pseudohypertrophy	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal circulating leptin concentration	Very often (80–99%)
Decreased activity of gonads	Very often (80–99%)
Delayed puberty	Very often (80–99%)
Early onset of puberty	Very often (80–99%)
Hypergonadotropic hypogonadism	Very often (80–99%)
Pubertal developmental failure in females	Very often (80–99%)
Pulmonary carcinoid tumor	Very often (80–99%)
Decreased adiponectin level	Often (30–79%)
Decreased serum leptin	Often (30–79%)
Delayed start of first period	Often (30–79%)
Female hypogonadism	Often (30–79%)
Neoplasm of the thyroid gland	Often (30–79%)
Congenital adrenal hypoplasia	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Abnormal intrahepatic bile duct morphology	Very often (80–99%)
Prominent belly button	Very often (80–99%)
Acid reflux	Often (30–79%)
Acute pancreatic inflammation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Rectum protrudes through anus	Often (30–79%)
Small intestine tumor	Often (30–79%)
Microcolon	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Tube feeding	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Decreased body weight	Very often (80–99%)
Faltering weight	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Severe faltering weight	Very often (80–99%)
Short stature	Very often (80–99%)
Weight loss	Very often (80–99%)
Overweight	Often (30–79%)
Obesity	Sometimes (5–29%)
Wasting syndrome	Sometimes (5–29%)
Growth delay as children	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Abnormal retinal pigmentation	Very often (80–99%)
Drooping upper eyelid	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Retina degeneration	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Corneal opacity	Sometimes (5–29%)
Corneal ulceration	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Always
Emphysema	Very often (80–99%)
Poorly developed lungs	Very often (80–99%)
Softening of voice box tissue	Very often (80–99%)
Breathing difficulties	Often (30–79%)
Lung cancer	Often (30–79%)
Orthopnea	Often (30–79%)
Respiratory function loss	Often (30–79%)
Upper airway obstruction	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Very often (80–99%)
Premature birth	Very often (80–99%)
Premature delivery because of cervical insufficiency or membrane fragility	Very often (80–99%)
Short umbilical cord	Very often (80–99%)
Small placenta	Very often (80–99%)
Fetal distress	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)
Large placenta	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Small ears	Always
Conductive deafness	Very often (80–99%)
Low-set ears	Very often (80–99%)
Low-frequency sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
High-frequency sensorineural hearing impairment	Sometimes (5–29%)
Prominent ear helix	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Exercise-induced muscle pain	Always
Fatigue	Always
Hip pain	Sometimes (5–29%)
Joint pain	Sometimes (5–29%)
Muscle ache	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding within the skull	Very often (80–99%)
Elevated hemoglobin A1c	Often (30–79%)
Thromboembolic stroke	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal cellular phenotype	Very often (80–99%)
Abnormal lymphocyte physiology	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Breast tumor	Often (30–79%)
Absent breast	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of complement system	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Very often (80–99%)

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 LMNA and how often each is seen. Find out more at hpo.jax.org.

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