Traits

Traits linked to ELN

elastin

The Human Phenotype Ontology links 312 traits to ELN, 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
Narrowing of peripheral lung artery	Always
Abnormal heart rate	Very often (80–99%)
Abnormality of the cardiovascular system	Very often (80–99%)
Cutis marmorata	Very often (80–99%)
Mucoid extracellular matrix accumulation	Very often (80–99%)
Supravalvular aortic stenosis	Very often (80–99%)
Abnormal left ventricular function	Often (30–79%)
Abnormality of the cerebral blood vessels	Often (30–79%)
Angina pectoris	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Ascending aortic dissection	Often (30–79%)
Bulge in wall of large artery that carries blood away from heart	Often (30–79%)
Cardiac failure	Often (30–79%)
Descending aortic dissection	Often (30–79%)
Disruption of blood oxygen supply to brain	Often (30–79%)
Enlarged heart	Often (30–79%)
Fainting spell	Often (30–79%)
High blood pressure	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Mitral valve prolapse	Often (30–79%)
Narrowing of an artery	Often (30–79%)
Narrowing of coronary artery	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Renovascular hypertension	Often (30–79%)
Stroke	Often (30–79%)
Systolic heart murmur	Often (30–79%)
Abdominal aortic aneurysm	Sometimes (5–29%)
Abnormal cardiac septum morphology	Sometimes (5–29%)
Abnormal carotid artery morphology	Sometimes (5–29%)
Abnormal endocardium morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic arch aneurysm	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Carotid artery dilatation	Sometimes (5–29%)
Depleted blood volume	Sometimes (5–29%)
Descending thoracic aorta aneurysm	Sometimes (5–29%)
Dilatation of the ventricular cavity	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Myxomatous mitral valve degeneration	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Narrowing of kidney artery	Sometimes (5–29%)
Overriding aorta	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Portal hypertension	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)
Narrowing of lung artery	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the neck	Very often (80–99%)
Abnormally large tongue	Very often (80–99%)
Broad forehead	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Drooping lower lip	Very often (80–99%)
Elf-like facial appearance	Very often (80–99%)
Eye folds	Very often (80–99%)
Full lower lip	Very often (80–99%)
High forehead	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Narrow face	Very often (80–99%)
Narrow opening between the eyelids	Very often (80–99%)
Open bite	Very often (80–99%)
Periorbital edema	Very often (80–99%)
Pointed chin	Very often (80–99%)
Short nose	Very often (80–99%)
Wide mouth	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Abnormal tooth enamel	Often (30–79%)
Abnormality of dental shape	Often (30–79%)
Abnormally small head	Often (30–79%)
Bad bite	Often (30–79%)
Beaked nose	Often (30–79%)
Broad nasal tip	Often (30–79%)
Cheekbone underdevelopment	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Full cheeks	Often (30–79%)
Fullness around the eyes	Often (30–79%)
Medial flaring of the eyebrow	Often (30–79%)
Narrow forehead	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Open mouth	Often (30–79%)
Delayed cranial suture closure	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Increased nuchal translucency	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Redundant neck skin	Sometimes (5–29%)
Retinal arteriolar tortuosity	Sometimes (5–29%)
Triangular face	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)
Extra bones within cranial sutures	Rarely (1–4%)
Little foramen magnum	Rarely (1–4%)
Midface retrusion	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Abnormal shape of nervous system	Very often (80–99%)
Abnormal social behavior	Very often (80–99%)
Abnormal speech pattern	Very often (80–99%)
Abnormality of balance	Very often (80–99%)
Abnormality of extrapyramidal motor function	Very often (80–99%)
Anxiety	Very often (80–99%)
Ataxia	Very often (80–99%)
Depression	Very often (80–99%)
Dysgraphia	Very often (80–99%)
Fear of loud sounds	Very often (80–99%)
Hyperacusis	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Involuntary movements	Very often (80–99%)
Lack of coordination of movement	Very often (80–99%)
Overfriendliness	Very often (80–99%)
Tremor	Very often (80–99%)
Attention deficit	Often (30–79%)
Autism	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Difficulty staying or falling asleep	Often (30–79%)
Impaired visuospatial constructive cognition	Often (30–79%)
Incoordination	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Short attention span	Often (30–79%)
Abnormal diencephalon morphology	Sometimes (5–29%)
Atrophy/Degeneration involving the corticospinal tracts	Sometimes (5–29%)
Brisk reflexes	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Chiari type I malformation	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Dural ectasia	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Inability to move vocal cords	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)
Autism spectrum disorder	Rarely (1–4%)
Obsessive-compulsive trait	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of pelvic girdle bone	Very often (80–99%)
Abnormality of connective tissue	Very often (80–99%)
Abnormal curve of the backbone	Often (30–79%)
Double-Jointed	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Hernia	Often (30–79%)
Hunched back	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Joint stiffness	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Low muscle tone	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis	Often (30–79%)
Prominent swayback	Often (30–79%)
Rounded shoulders	Often (30–79%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Abnormality of the sternum	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Fusion of joints	Sometimes (5–29%)
Increased bone mineral density	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Vertebral segmentation defect	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the bladder	Often (30–79%)
Abnormally shaped kidney	Often (30–79%)
Bladder diverticulum	Often (30–79%)
Frequent urinary tract infections	Often (30–79%)
Narrowing of the urethra	Often (30–79%)
Pelvic kidney	Often (30–79%)
Renal failure	Often (30–79%)
Sagging uterus	Often (30–79%)
Abnormal tubulointerstitial morphology	Sometimes (5–29%)
Functional abnormality of male internal genitalia	Sometimes (5–29%)
Increased calcium level in kidney	Sometimes (5–29%)
Kidney stone	Sometimes (5–29%)
Multiple kidney cysts	Sometimes (5–29%)
Polycystic ovaries	Sometimes (5–29%)
Pyelonephritis	Sometimes (5–29%)
Short penis	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Absent kidney on one side	Rarely (1–4%)
Enuresis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Severe farsightedness	Very often (80–99%)
Abnormality of the iris	Often (30–79%)
Blue eyes	Often (30–79%)
Cross-eyed	Often (30–79%)
Nystagmus-induced head nodding	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormality of refraction	Sometimes (5–29%)
Abnormality of tear production	Sometimes (5–29%)
Abnormally close eyes	Sometimes (5–29%)
Absent/small iris	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
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%)
Drooping upper eyelid	Sometimes (5–29%)
Enlarged cornea	Sometimes (5–29%)
Flat cornea	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Posterior embryotoxon	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Acid reflux	Often (30–79%)
Colonic diverticula	Often (30–79%)
Constipation	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Inguinal hernia	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Rectum protrudes through anus	Often (30–79%)
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Abnormality of the mucous membrane layer of stomach	Sometimes (5–29%)
Celiac disease	Sometimes (5–29%)
Extra kidney	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Gallstones	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)
Small bowel diverticula	Sometimes (5–29%)
Sore in the lining of gastrointestinal tract	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Vomiting	Rarely (1–4%)
Chronic constipation	Not recorded

Abnormality of the integument

Trait	How often it is seen
Loose redundant skin	Always
Fragmented elastic fibers in the dermis	Very often (80–99%)
Hanging skin	Very often (80–99%)
Hyperelastic skin	Very often (80–99%)
Increased number of skin folds	Very often (80–99%)
Premature skin wrinkling	Very often (80–99%)
Abnormal fingernails	Often (30–79%)
Premature graying of hair	Often (30–79%)
Prematurely aged appearance	Often (30–79%)
Small nail	Often (30–79%)
Soft skin	Often (30–79%)
Spinal dimple	Often (30–79%)
Underdeveloped toenails	Often (30–79%)
Abnormal fingerprints	Sometimes (5–29%)
Dermal translucency	Sometimes (5–29%)
port-wine stain	Sometimes (5–29%)
Premature aged appearance	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bunion	Often (30–79%)
Curvature of little finger	Often (30–79%)
Dropped arches	Often (30–79%)
Knock knees	Often (30–79%)
Abnormality of the ankle	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Fused forearm bones	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)
Back knee	Rarely (1–4%)
Club feet	Rarely (1–4%)
Talipes calcaneovalgus	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
High blood calcium levels	Very often (80–99%)
Diabetes mellitus	Often (30–79%)
Elevated blood creatine phosphokinase	Often (30–79%)
Elevated urine calcium levels	Often (30–79%)
High urine protein levels	Often (30–79%)
Abnormal circulating lipid concentration	Sometimes (5–29%)
Deficient in vitamin D	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)
Food intolerance	Not recorded
Glucose intolerance	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Large ears	Very often (80–99%)
Prominent ear	Very often (80–99%)
Chronic infections of the middle ear	Often (30–79%)
Large earlobe	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Low-set ears	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Often (30–79%)
Emphysema	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Paroxysmal dyspnea	Often (30–79%)
Permanent enlargement of the airways of the lungs	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Very often (80–99%)
Short stature	Very often (80–99%)
Obesity	Often (30–79%)
Growth delay as children	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)
Tall stature	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of sexual maturation	Often (30–79%)
Early onset of puberty	Sometimes (5–29%)
Hypogonadotropic hypogonadism	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Very often (80–99%)
Hoarse voice	Very often (80–99%)
Inability to produce voice sounds	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Joint pain	Often (30–79%)
Sudden death	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Sometimes (5–29%)
Unusual bronchiolitis	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 ELN and how often each is seen. Find out more at hpo.jax.org.

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