Kenmerken

Kenmerken gekoppeld aan ELN

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De Human Phenotype Ontology koppelt 312 kenmerken aan ELN, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Narrowing of peripheral lung artery	Altijd
Abnormal heart rate	Heel vaak (80–99%)
Abnormality of the cardiovascular system	Heel vaak (80–99%)
Cutis marmorata	Heel vaak (80–99%)
Mucoid extracellular matrix accumulation	Heel vaak (80–99%)
Supravalvular aortic stenosis	Heel vaak (80–99%)
Abnormal left ventricular function	Vaak (30–79%)
Abnormality of the cerebral blood vessels	Vaak (30–79%)
Angina pectoris	Vaak (30–79%)
Aortic regurgitation	Vaak (30–79%)
Ascending aortic dissection	Vaak (30–79%)
Bulge in wall of large artery that carries blood away from heart	Vaak (30–79%)
Cardiac failure	Vaak (30–79%)
Descending aortic dissection	Vaak (30–79%)
Disruption of blood oxygen supply to brain	Vaak (30–79%)
Enlarged heart	Vaak (30–79%)
Fainting spell	Vaak (30–79%)
High blood pressure	Vaak (30–79%)
Hole in heart wall separating two lower heart chambers	Vaak (30–79%)
Mitral regurgitation	Vaak (30–79%)
Mitral valve prolapse	Vaak (30–79%)
Narrowing of an artery	Vaak (30–79%)
Narrowing of coronary artery	Vaak (30–79%)
Narrowing of pulmonic valve	Vaak (30–79%)
Plaque build-up in arteries supplying blood to heart	Vaak (30–79%)
Renovascular hypertension	Vaak (30–79%)
Stroke	Vaak (30–79%)
Systolic heart murmur	Vaak (30–79%)
Abdominal aortic aneurysm	Soms (5–29%)
Abnormal cardiac septum morphology	Soms (5–29%)
Abnormal carotid artery morphology	Soms (5–29%)
Abnormal endocardium morphology	Soms (5–29%)
An opening in the wall separating the top two chambers of the heart	Soms (5–29%)
Aortic arch aneurysm	Soms (5–29%)
Aortic valve has two leaflets rather than three	Soms (5–29%)
Brain aneurysm	Soms (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Soms (5–29%)
Carotid artery dilatation	Soms (5–29%)
Depleted blood volume	Soms (5–29%)
Descending thoracic aorta aneurysm	Soms (5–29%)
Dilatation of the ventricular cavity	Soms (5–29%)
Enlarged and thickened heart muscle	Soms (5–29%)
Heart attack	Soms (5–29%)
Ischemic stroke	Soms (5–29%)
Mini stroke	Soms (5–29%)
Myxomatous mitral valve degeneration	Soms (5–29%)
Narrowing of aorta	Soms (5–29%)
Narrowing of kidney artery	Soms (5–29%)
Overriding aorta	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)
Peripheral arterial stenosis	Soms (5–29%)
Portal hypertension	Soms (5–29%)
Sudden cardiac death	Soms (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Soms (5–29%)
Tetralogy of Fallot	Soms (5–29%)
Narrowing of lung artery	Niet vastgelegd

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Abnormality of the neck	Heel vaak (80–99%)
Abnormally large tongue	Heel vaak (80–99%)
Broad forehead	Heel vaak (80–99%)
Coarse facial features	Heel vaak (80–99%)
Drooping lower lip	Heel vaak (80–99%)
Elf-like facial appearance	Heel vaak (80–99%)
Eye folds	Heel vaak (80–99%)
Full lower lip	Heel vaak (80–99%)
High forehead	Heel vaak (80–99%)
Little lower jaw	Heel vaak (80–99%)
Long philtrum	Heel vaak (80–99%)
Narrow face	Heel vaak (80–99%)
Narrow opening between the eyelids	Heel vaak (80–99%)
Open bite	Heel vaak (80–99%)
Periorbital edema	Heel vaak (80–99%)
Pointed chin	Heel vaak (80–99%)
Short nose	Heel vaak (80–99%)
Wide mouth	Heel vaak (80–99%)
Wide nasal bridge	Heel vaak (80–99%)
Abnormal facial shape	Vaak (30–79%)
Abnormal tooth enamel	Vaak (30–79%)
Abnormality of dental shape	Vaak (30–79%)
Abnormally small head	Vaak (30–79%)
Bad bite	Vaak (30–79%)
Beaked nose	Vaak (30–79%)
Broad nasal tip	Vaak (30–79%)
Cheekbone underdevelopment	Vaak (30–79%)
Decreased size of tooth	Vaak (30–79%)
Depressed nasal bridge	Vaak (30–79%)
Failure of development of between one and six teeth	Vaak (30–79%)
Full cheeks	Vaak (30–79%)
Fullness around the eyes	Vaak (30–79%)
Medial flaring of the eyebrow	Vaak (30–79%)
Narrow forehead	Vaak (30–79%)
Nasal tip, upturned	Vaak (30–79%)
Open mouth	Vaak (30–79%)
Delayed cranial suture closure	Soms (5–29%)
Dental cavities	Soms (5–29%)
Gum enlargement	Soms (5–29%)
High, narrow palate	Soms (5–29%)
Increased nuchal translucency	Soms (5–29%)
Prominent forehead	Soms (5–29%)
Receding chin	Soms (5–29%)
Redundant neck skin	Soms (5–29%)
Retinal arteriolar tortuosity	Soms (5–29%)
Triangular face	Soms (5–29%)
Zygomatic flattening	Soms (5–29%)
Extra bones within cranial sutures	Zelden (1–4%)
Little foramen magnum	Zelden (1–4%)
Midface retrusion	Niet vastgelegd

Abnormality of the nervous system

Kenmerk	Hoe vaak het voorkomt
Abnormal gait	Heel vaak (80–99%)
Abnormal shape of nervous system	Heel vaak (80–99%)
Abnormal social behavior	Heel vaak (80–99%)
Abnormal speech pattern	Heel vaak (80–99%)
Abnormality of balance	Heel vaak (80–99%)
Abnormality of extrapyramidal motor function	Heel vaak (80–99%)
Anxiety	Heel vaak (80–99%)
Ataxia	Heel vaak (80–99%)
Depression	Heel vaak (80–99%)
Dysgraphia	Heel vaak (80–99%)
Fear of loud sounds	Heel vaak (80–99%)
Hyperacusis	Heel vaak (80–99%)
Increased reflexes	Heel vaak (80–99%)
Intellectual disability	Heel vaak (80–99%)
Involuntary movements	Heel vaak (80–99%)
Lack of coordination of movement	Heel vaak (80–99%)
Overfriendliness	Heel vaak (80–99%)
Tremor	Heel vaak (80–99%)
Attention deficit	Vaak (30–79%)
Autism	Vaak (30–79%)
Behavioral abnormality	Vaak (30–79%)
Difficulty staying or falling asleep	Vaak (30–79%)
Impaired visuospatial constructive cognition	Vaak (30–79%)
Incoordination	Vaak (30–79%)
Obsessive compulsive behavior	Vaak (30–79%)
Short attention span	Vaak (30–79%)
Abnormal diencephalon morphology	Soms (5–29%)
Atrophy/Degeneration involving the corticospinal tracts	Soms (5–29%)
Brisk reflexes	Soms (5–29%)
Chiari malformation	Soms (5–29%)
Chiari type I malformation	Soms (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Soms (5–29%)
Difficulty articulating speech	Soms (5–29%)
Difficulty sleeping	Soms (5–29%)
Dural ectasia	Soms (5–29%)
Global developmental delay	Soms (5–29%)
Inability to move vocal cords	Soms (5–29%)
Loss of developmental milestones	Soms (5–29%)
Motor delay	Soms (5–29%)
Small cerebellum	Soms (5–29%)
Spina bifida occulta	Soms (5–29%)
Autism spectrum disorder	Zelden (1–4%)
Obsessive-compulsive trait	Niet vastgelegd

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Abnormal shape of pelvic girdle bone	Heel vaak (80–99%)
Abnormality of connective tissue	Heel vaak (80–99%)
Abnormal curve of the backbone	Vaak (30–79%)
Double-Jointed	Vaak (30–79%)
Flexed joint that cannot be straightened	Vaak (30–79%)
Hernia	Vaak (30–79%)
Hunched back	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Vaak (30–79%)
Joint stiffness	Vaak (30–79%)
Kyphoscoliosis	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Osteopenia	Vaak (30–79%)
Osteoporosis	Vaak (30–79%)
Prominent swayback	Vaak (30–79%)
Rounded shoulders	Vaak (30–79%)
Abnormal vertebral body morphology	Soms (5–29%)
Abnormality of the sternum	Soms (5–29%)
Delayed bone maturation	Soms (5–29%)
Funnel chest	Soms (5–29%)
Fusion of joints	Soms (5–29%)
Increased bone mineral density	Soms (5–29%)
Muscle tissue disease	Soms (5–29%)
Scoliosis	Soms (5–29%)
Vertebral segmentation defect	Soms (5–29%)
Generalized decreased muscle tone	Niet vastgelegd

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the bladder	Vaak (30–79%)
Abnormally shaped kidney	Vaak (30–79%)
Bladder diverticulum	Vaak (30–79%)
Frequent urinary tract infections	Vaak (30–79%)
Narrowing of the urethra	Vaak (30–79%)
Pelvic kidney	Vaak (30–79%)
Renal failure	Vaak (30–79%)
Sagging uterus	Vaak (30–79%)
Abnormal tubulointerstitial morphology	Soms (5–29%)
Functional abnormality of male internal genitalia	Soms (5–29%)
Increased calcium level in kidney	Soms (5–29%)
Kidney stone	Soms (5–29%)
Multiple kidney cysts	Soms (5–29%)
Polycystic ovaries	Soms (5–29%)
Pyelonephritis	Soms (5–29%)
Short penis	Soms (5–29%)
Small kidneys	Soms (5–29%)
Underdeveloped penis	Soms (5–29%)
Undescended testes	Soms (5–29%)
Vesicoureteral reflux	Soms (5–29%)
Absent kidney on one side	Zelden (1–4%)
Enuresis	Niet vastgelegd

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Severe farsightedness	Heel vaak (80–99%)
Abnormality of the iris	Vaak (30–79%)
Blue eyes	Vaak (30–79%)
Cross-eyed	Vaak (30–79%)
Nystagmus-induced head nodding	Vaak (30–79%)
Visual impairment	Vaak (30–79%)
Abnormality of refraction	Soms (5–29%)
Abnormality of tear production	Soms (5–29%)
Abnormally close eyes	Soms (5–29%)
Absent/small iris	Soms (5–29%)
Close sighted	Soms (5–29%)
Clouding of the lens of the eye	Soms (5–29%)
Clouding of the lens of the eye at birth	Soms (5–29%)
Corneal opacity	Soms (5–29%)
Drooping upper eyelid	Soms (5–29%)
Enlarged cornea	Soms (5–29%)
Flat cornea	Soms (5–29%)
Glaucoma	Soms (5–29%)
Lazy eye	Soms (5–29%)
Posterior embryotoxon	Soms (5–29%)
Wide-set eyes	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Abdominal pain	Heel vaak (80–99%)
Acid reflux	Vaak (30–79%)
Colonic diverticula	Vaak (30–79%)
Constipation	Vaak (30–79%)
Feeding difficulties in infancy	Vaak (30–79%)
Inguinal hernia	Vaak (30–79%)
Nausea and vomiting	Vaak (30–79%)
Rectum protrudes through anus	Vaak (30–79%)
Abnormal connection between trachea and esophagus	Soms (5–29%)
Abnormality of the mucous membrane layer of stomach	Soms (5–29%)
Celiac disease	Soms (5–29%)
Extra kidney	Soms (5–29%)
Feeding difficulties	Soms (5–29%)
Gallstones	Soms (5–29%)
Malabsorption	Soms (5–29%)
Small bowel diverticula	Soms (5–29%)
Sore in the lining of gastrointestinal tract	Soms (5–29%)
Umbilical hernia	Soms (5–29%)
Vomiting	Zelden (1–4%)
Chronic constipation	Niet vastgelegd

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Loose redundant skin	Altijd
Fragmented elastic fibers in the dermis	Heel vaak (80–99%)
Hanging skin	Heel vaak (80–99%)
Hyperelastic skin	Heel vaak (80–99%)
Increased number of skin folds	Heel vaak (80–99%)
Premature skin wrinkling	Heel vaak (80–99%)
Abnormal fingernails	Vaak (30–79%)
Premature graying of hair	Vaak (30–79%)
Prematurely aged appearance	Vaak (30–79%)
Small nail	Vaak (30–79%)
Soft skin	Vaak (30–79%)
Spinal dimple	Vaak (30–79%)
Underdeveloped toenails	Vaak (30–79%)
Abnormal fingerprints	Soms (5–29%)
Dermal translucency	Soms (5–29%)
port-wine stain	Soms (5–29%)
Premature aged appearance	Niet vastgelegd

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Bunion	Vaak (30–79%)
Curvature of little finger	Vaak (30–79%)
Dropped arches	Vaak (30–79%)
Knock knees	Vaak (30–79%)
Abnormality of the ankle	Soms (5–29%)
Dislocated kneecap	Soms (5–29%)
Fused forearm bones	Soms (5–29%)
Hip dislocation	Soms (5–29%)
Inward turned thumb	Soms (5–29%)
Long slender fingers	Soms (5–29%)
Back knee	Zelden (1–4%)
Club feet	Zelden (1–4%)
Talipes calcaneovalgus	Zelden (1–4%)

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
High blood calcium levels	Heel vaak (80–99%)
Diabetes mellitus	Vaak (30–79%)
Elevated blood creatine phosphokinase	Vaak (30–79%)
Elevated urine calcium levels	Vaak (30–79%)
High urine protein levels	Vaak (30–79%)
Abnormal circulating lipid concentration	Soms (5–29%)
Deficient in vitamin D	Soms (5–29%)
Noninsulin-dependent diabetes	Soms (5–29%)
Food intolerance	Niet vastgelegd
Glucose intolerance	Niet vastgelegd

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Ears rotated toward back of head	Heel vaak (80–99%)
Large ears	Heel vaak (80–99%)
Prominent ear	Heel vaak (80–99%)
Chronic infections of the middle ear	Vaak (30–79%)
Large earlobe	Vaak (30–79%)
Recurrent middle ear infection	Vaak (30–79%)
Sensorineural hearing impairment	Vaak (30–79%)
Low-set ears	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Breathing difficulty	Vaak (30–79%)
Emphysema	Vaak (30–79%)
Exertional breathlessness	Vaak (30–79%)
Paroxysmal dyspnea	Vaak (30–79%)
Permanent enlargement of the airways of the lungs	Vaak (30–79%)
Collapsed lung	Soms (5–29%)
Coughing up blood	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight in infancy	Heel vaak (80–99%)
Short stature	Heel vaak (80–99%)
Obesity	Vaak (30–79%)
Growth delay as children	Soms (5–29%)
Prenatal growth deficiency	Soms (5–29%)
Tall stature	Soms (5–29%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Early onset of sexual maturation	Vaak (30–79%)
Early onset of puberty	Soms (5–29%)
Hypogonadotropic hypogonadism	Soms (5–29%)
Underactive thyroid	Soms (5–29%)

Abnormality of the voice

Kenmerk	Hoe vaak het voorkomt
Abnormality of the voice	Heel vaak (80–99%)
Hoarse voice	Heel vaak (80–99%)
Inability to produce voice sounds	Soms (5–29%)

Constitutional symptom

Kenmerk	Hoe vaak het voorkomt
Chest pain	Vaak (30–79%)
Joint pain	Vaak (30–79%)
Sudden death	Zelden (1–4%)

Abnormality of blood and blood-forming tissues

Kenmerk	Hoe vaak het voorkomt
Bruising susceptibility	Soms (5–29%)
Subarachnoid hemorrhage	Soms (5–29%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Recurrent respiratory infections	Soms (5–29%)
Unusual bronchiolitis	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan ELN gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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