Traits

Traits linked to NOTCH3

notch receptor 3

The Human Phenotype Ontology links 282 traits to NOTCH3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormal dentate nucleus morphology	Întotdeauna
Abnormal diffusion weighted cerebral MRI morphology	Întotdeauna
Abnormal pyramidal sign	Întotdeauna
Abulia	Întotdeauna
Attention deficit	Întotdeauna
Babinski sign	Întotdeauna
Balance impairment	Întotdeauna
Boiling mad	Întotdeauna
Brain degeneration	Întotdeauna
Brisk reflexes	Întotdeauna
Cavitation of the basal ganglia	Întotdeauna
Cerebellar vermis hypoplasia	Întotdeauna
Cognitive impairment	Întotdeauna
Deep cerebral white matter hyperintensities	Întotdeauna
Degeneration of cerebellum	Întotdeauna
Degeneration of cerebrum	Întotdeauna
Delayed speech and language development	Întotdeauna
Difficulty finding words	Întotdeauna
Focal T2 hyperintense basal ganglia lesion	Întotdeauna
Frequent temper tantrums	Întotdeauna
Gliosis	Întotdeauna
Global developmental delay	Întotdeauna
Hallucinations of sound	Întotdeauna
Inability to coordinate movements when walking	Întotdeauna
Inappropriate laughter	Întotdeauna
Intellectual disability, mild	Întotdeauna
Intellectual disability, severe	Întotdeauna
Irritability	Întotdeauna
Lateral ventricle dilatation	Întotdeauna
Leukodystrophy	Întotdeauna
Leukoencephalopathy	Întotdeauna
Memory impairment	Întotdeauna
Migraine	Întotdeauna
Mild global developmental delay	Întotdeauna
Overactive lower leg reflex	Întotdeauna
Paralysis on one side of body	Întotdeauna
Periventricular white matter hyperintensities	Întotdeauna
Perseverative thought	Întotdeauna
Personality changes	Întotdeauna
Pseudobulbar signs	Întotdeauna
Psychosis	Întotdeauna
Reduced cerebral white matter volume	Întotdeauna
Repeated seizures without recovery between them	Întotdeauna
Simple febrile seizure	Întotdeauna
Subependymal nodules	Întotdeauna
Thin corpus callosum	Întotdeauna
Upper limb hyperreflexia	Întotdeauna
Visual hallucinations	Întotdeauna
Abnormal cerebral white matter morphology	Foarte des (80–99%)
Dural ectasia	Foarte des (80–99%)
Increased reflexes	Foarte des (80–99%)
Meningocele	Foarte des (80–99%)
Multifocal hyperintensity of cerebral white matter on MRI	Foarte des (80–99%)
Ataxia	Des (30–79%)
Can't control feelings	Des (30–79%)
Clonus	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Dementia	Des (30–79%)
Difficulty articulating speech	Des (30–79%)
EEG abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Fluid-filled cyst in spinal cord	Des (30–79%)
Grand mal seizures	Des (30–79%)
Headache	Des (30–79%)
Intellectual disability	Des (30–79%)
Lack of feeling, emotion, interest	Des (30–79%)
Migraine with aura	Des (30–79%)
Motor delay	Des (30–79%)
Obstructive sleep apnea	Des (30–79%)
Weakness of one side of body	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Absent speech development	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Benign neoplasm of the central nervous system	Uneori (5–29%)
Chiari malformation	Uneori (5–29%)
Chiari type I malformation	Uneori (5–29%)
Confusion	Uneori (5–29%)
Depression	Uneori (5–29%)
Encephalopathy	Uneori (5–29%)
Impaired visuospatial constructive cognition	Uneori (5–29%)
Language impairment	Uneori (5–29%)
Loss of consciousness	Uneori (5–29%)
Mental slowness	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Parkinsonism	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Progressive degeneration of movement	Uneori (5–29%)
Recurrent subcortical infarcts	Uneori (5–29%)
Tethered cord	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Behavioral abnormality	Neînregistrat
Fluid-filled sac located in membrane surrounding brain or spinal cord	Neînregistrat
Subcortical dementia	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Drooling	Întotdeauna
Little lower jaw	Întotdeauna
Small head present at birth	Întotdeauna
Zygomatic flattening	Întotdeauna
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Extra bones within cranial sutures	Foarte des (80–99%)
High palate	Foarte des (80–99%)
High, narrow palate	Foarte des (80–99%)
Long, narrow head	Foarte des (80–99%)
Narrow face	Foarte des (80–99%)
Abnormality of the face	Des (30–79%)
Abnormality of the skull	Des (30–79%)
Abnormally small head	Des (30–79%)
Corners of eye widely separated	Des (30–79%)
Dental crowding	Des (30–79%)
Enlargement of craniofacial bones	Des (30–79%)
Gingival fibromatosis	Des (30–79%)
Increased thickness of skull cap	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Monobrow	Des (30–79%)
Prominent metopic ridge	Des (30–79%)
Short neck	Des (30–79%)
Smooth philtrum	Des (30–79%)
Big calvaria	Uneori (5–29%)
Broad opening between the eyelids	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Cystic hygroma	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Facial diplegia	Uneori (5–29%)
Long eyelashes	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Narrow eyelid opening	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Round face	Uneori (5–29%)
Short opening between the eyelids	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Dense bone of skull base	Neînregistrat
Flattening of the skull base	Neînregistrat
Increased amount of facial fat	Neînregistrat
Increased fat around the neck	Neînregistrat
Short nasal bridge	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Damaged optic nerve	Întotdeauna
Drooping upper eyelid	Întotdeauna
Esodeviation	Întotdeauna
Horizontal nystagmus	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Moderate hypermetropia	Întotdeauna
Noninflammatory retina disease	Întotdeauna
Oculomotor apraxia	Întotdeauna
Wide-set eyes	Des (30–79%)
Abnormality of the eye	Uneori (5–29%)
Anisometropia	Uneori (5–29%)
Anterior synechiae of the anterior chamber	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Bulging eye	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping of both upper eyelids	Uneori (5–29%)
Dropping of one upper eyelid	Uneori (5–29%)
Epiretinal membrane	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Posterior vitreous detachment	Uneori (5–29%)
Retinal cotton wool spot	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Visual loss	Uneori (5–29%)
Abnormal electroretinogram	Neînregistrat
Abnormality of visual evoked potentials	Neînregistrat
Nonarteritic anterior ischemic optic neuropathy	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Appendicular spasticity	Întotdeauna
Double-Jointed	Întotdeauna
Low muscle tone	Întotdeauna
Low muscle tone in trunk	Întotdeauna
Lower limb spasticity	Întotdeauna
Spastic tetraparesis	Întotdeauna
Thoracic scoliosis	Întotdeauna
Bone cyst	Foarte des (80–99%)
Muscular abnormality	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Abnormal vertebral body morphology	Des (30–79%)
Abnormality of the chest	Des (30–79%)
Calcium deposits in joints	Des (30–79%)
Decreased muscle mass	Des (30–79%)
Funnel chest	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Vertebral fusion	Des (30–79%)
Abnormal sacrum morphology	Uneori (5–29%)
Breakdown of bone	Uneori (5–29%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Limitation of joint mobility	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Biconcave vertebral bodies	Neînregistrat
Inability to make and keep healthy fat tissue	Neînregistrat
Loss of fat tissue below the skin in gluts	Neînregistrat
Loss of fat tissue below the skin in limbs	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Aneurysm	Întotdeauna
Fainting spell	Întotdeauna
Hole in heart wall separating two lower heart chambers	Întotdeauna
Livedo racemosa	Întotdeauna
Patent ductus arteriosus	Întotdeauna
Varicose veins	Întotdeauna
Lacunar stroke	Foarte des (80–99%)
Bulge in wall of large artery that carries blood away from heart	Des (30–79%)
Disruption of blood oxygen supply to brain	Des (30–79%)
Mini stroke	Des (30–79%)
Stroke	Des (30–79%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
High blood pressure	Uneori (5–29%)
Ischemic stroke	Uneori (5–29%)
Livedo reticularis	Uneori (5–29%)
Narrowing of an artery	Uneori (5–29%)
Raynaud phenomenon	Uneori (5–29%)
Plaque build-up in arteries supplying blood to heart	Neînregistrat
Prominent veins	Neînregistrat
Vascular granular osmiophilic material deposition	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Nausea and vomiting	Întotdeauna
Poor swallowing	Întotdeauna
Abnormality of the intestine	Des (30–79%)
Inguinal hernia	Des (30–79%)
Prolonged yellowing of skin in newborn	Des (30–79%)
Umbilical hernia	Des (30–79%)
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Cancer of the pancreas	Uneori (5–29%)
Intestinal obstruction	Uneori (5–29%)
Poor suck	Uneori (5–29%)
Acute pancreatic inflammation	Neînregistrat
Enlarged liver	Neînregistrat
Pseudobulbar paralysis	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Coarse hair	Întotdeauna
Firm lump under the skin	Foarte des (80–99%)
Skin cancer	Foarte des (80–99%)
Abnormality of the hair	Des (30–79%)
Keloids	Des (30–79%)
Irregular hyperpigmentation	Uneori (5–29%)
Open skin sore	Uneori (5–29%)
Patchy darkened skin	Uneori (5–29%)
Darkened and thickened skin	Neînregistrat
Increased fat below the skin in trunk	Neînregistrat
Yellow bumps of fatty deposits on skin	Neînregistrat

Abnormality of the ear

Trait	Cât de frecvent apare
Dizziness	Întotdeauna
Low-set ears	Întotdeauna
Absent ear canal	Foarte des (80–99%)
Conductive deafness	Foarte des (80–99%)
Ears rotated toward back of head	Foarte des (80–99%)
Abnormality of the middle ear ossicles	Des (30–79%)
Sensorineural hearing impairment	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormal levels of creatine kinase in blood	Întotdeauna
Fever	Întotdeauna
Diabetes mellitus	Uneori (5–29%)
High blood calcium levels	Uneori (5–29%)
High blood sugar	Neînregistrat
Increased plasma triglycerides	Neînregistrat
Insulin resistant diabetes	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Loss of bladder control	Întotdeauna
Bilateral cryptorchidism	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormality of the kidney	Uneori (5–29%)
Lack of bladder control due to nervous system injury	Uneori (5–29%)
Stress urinary incontinence	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Caesarean section	Întotdeauna
High levels of amniotic fluid	Întotdeauna
Less than 10 fetal movements in 12 hours	Întotdeauna
Low levels of amniotic fluid	Des (30–79%)
Placenta previa	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Întotdeauna
Obesity	Întotdeauna
Short stature	Întotdeauna
Small for gestational age	Întotdeauna
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Excessive sweating of hands	Întotdeauna
Increased muscle tone of arm or leg	Întotdeauna
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Prominent fingertip pads	Uneori (5–29%)

Abnormal tissue mass

Trait	Cât de frecvent apare
Cancer of connective tissue	Foarte des (80–99%)
Fibroma	Foarte des (80–99%)
Myofibromatosis	Neînregistrat

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Nocturnal hypoventilation	Întotdeauna
Lung cancer	Des (30–79%)
Softening of voice box tissue	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Bleeding in brain	Uneori (5–29%)
Bleeding within the skull	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Infection in blood stream	Întotdeauna
Meningitis	Întotdeauna

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Underactive thyroid	Întotdeauna

Abnormality of the voice

Trait	Cât de frecvent apare
Nasal speech	Întotdeauna

Constitutional symptom

Trait	Cât de frecvent apare
Fatigue	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NOTCH3 and how often each is seen. Find out more at hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu