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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Appendicular spasticity	Sempre
Double-Jointed	Sempre
Low muscle tone	Sempre
Low muscle tone in trunk	Sempre
Lower limb spasticity	Sempre
Spastic tetraparesis	Sempre
Thoracic scoliosis	Sempre
Bone cyst	Molto spesso (80–99%)
Muscular abnormality	Molto spesso (80–99%)
Scoliosis	Molto spesso (80–99%)
Abnormal vertebral body morphology	Spesso (30–79%)
Abnormality of the chest	Spesso (30–79%)
Calcium deposits in joints	Spesso (30–79%)
Decreased muscle mass	Spesso (30–79%)
Funnel chest	Spesso (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Spesso (30–79%)
Vertebral fusion	Spesso (30–79%)
Abnormal sacrum morphology	A volte (5–29%)
Breakdown of bone	A volte (5–29%)
Congenital diaphragmatic hernia	A volte (5–29%)
Hunched back	A volte (5–29%)
Limitation of joint mobility	A volte (5–29%)
Prominent swayback	A volte (5–29%)
Biconcave vertebral bodies	Non registrato
Inability to make and keep healthy fat tissue	Non registrato
Loss of fat tissue below the skin in gluts	Non registrato
Loss of fat tissue below the skin in limbs	Non registrato

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
Aneurysm	Sempre
Fainting spell	Sempre
Hole in heart wall separating two lower heart chambers	Sempre
Livedo racemosa	Sempre
Patent ductus arteriosus	Sempre
Varicose veins	Sempre
Lacunar stroke	Molto spesso (80–99%)
Bulge in wall of large artery that carries blood away from heart	Spesso (30–79%)
Disruption of blood oxygen supply to brain	Spesso (30–79%)
Mini stroke	Spesso (30–79%)
Stroke	Spesso (30–79%)
Aortic valve has two leaflets rather than three	A volte (5–29%)
High blood pressure	A volte (5–29%)
Ischemic stroke	A volte (5–29%)
Livedo reticularis	A volte (5–29%)
Narrowing of an artery	A volte (5–29%)
Raynaud phenomenon	A volte (5–29%)
Plaque build-up in arteries supplying blood to heart	Non registrato
Prominent veins	Non registrato
Vascular granular osmiophilic material deposition	Non registrato

Abnormality of the digestive system

Trait	Frequenza di osservazione
Nausea and vomiting	Sempre
Poor swallowing	Sempre
Abnormality of the intestine	Spesso (30–79%)
Inguinal hernia	Spesso (30–79%)
Prolonged yellowing of skin in newborn	Spesso (30–79%)
Umbilical hernia	Spesso (30–79%)
Abnormal connection between trachea and esophagus	A volte (5–29%)
Cancer of the pancreas	A volte (5–29%)
Intestinal obstruction	A volte (5–29%)
Poor suck	A volte (5–29%)
Acute pancreatic inflammation	Non registrato
Enlarged liver	Non registrato
Pseudobulbar paralysis	Non registrato

Abnormality of the integument

Trait	Frequenza di osservazione
Coarse hair	Sempre
Firm lump under the skin	Molto spesso (80–99%)
Skin cancer	Molto spesso (80–99%)
Abnormality of the hair	Spesso (30–79%)
Keloids	Spesso (30–79%)
Irregular hyperpigmentation	A volte (5–29%)
Open skin sore	A volte (5–29%)
Patchy darkened skin	A volte (5–29%)
Darkened and thickened skin	Non registrato
Increased fat below the skin in trunk	Non registrato
Yellow bumps of fatty deposits on skin	Non registrato

Abnormality of the ear

Trait	Frequenza di osservazione
Dizziness	Sempre
Low-set ears	Sempre
Absent ear canal	Molto spesso (80–99%)
Conductive deafness	Molto spesso (80–99%)
Ears rotated toward back of head	Molto spesso (80–99%)
Abnormality of the middle ear ossicles	Spesso (30–79%)
Sensorineural hearing impairment	A volte (5–29%)

Laboratory abnormality

Trait	Frequenza di osservazione
Abnormal levels of creatine kinase in blood	Sempre
Fever	Sempre
Diabetes mellitus	A volte (5–29%)
High blood calcium levels	A volte (5–29%)
High blood sugar	Non registrato
Increased plasma triglycerides	Non registrato
Insulin resistant diabetes	Non registrato

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Loss of bladder control	Sempre
Bilateral cryptorchidism	Spesso (30–79%)
Undescended testes	Spesso (30–79%)
Abnormality of the kidney	A volte (5–29%)
Lack of bladder control due to nervous system injury	A volte (5–29%)
Stress urinary incontinence	A volte (5–29%)

Abnormality of prenatal development or birth

Trait	Frequenza di osservazione
Caesarean section	Sempre
High levels of amniotic fluid	Sempre
Less than 10 fetal movements in 12 hours	Sempre
Low levels of amniotic fluid	Spesso (30–79%)
Placenta previa	A volte (5–29%)

Growth abnormality

Trait	Frequenza di osservazione
Faltering weight	Sempre
Obesity	Sempre
Short stature	Sempre
Small for gestational age	Sempre
Prenatal growth deficiency	A volte (5–29%)

Abnormality of limbs

Trait	Frequenza di osservazione
Excessive sweating of hands	Sempre
Increased muscle tone of arm or leg	Sempre
Abnormality of the wide portion of a long bone	Molto spesso (80–99%)
Prominent fingertip pads	A volte (5–29%)

Abnormal tissue mass

Trait	Frequenza di osservazione
Cancer of connective tissue	Molto spesso (80–99%)
Fibroma	Molto spesso (80–99%)
Myofibromatosis	Non registrato

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Nocturnal hypoventilation	Sempre
Lung cancer	Spesso (30–79%)
Softening of voice box tissue	A volte (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Frequenza di osservazione
Bleeding in brain	A volte (5–29%)
Bleeding within the skull	A volte (5–29%)

Abnormality of the immune system

Trait	Frequenza di osservazione
Infection in blood stream	Sempre
Meningitis	Sempre

Abnormality of the endocrine system

Trait	Frequenza di osservazione
Underactive thyroid	Sempre

Abnormality of the voice

Trait	Frequenza di osservazione
Nasal speech	Sempre

Constitutional symptom

Trait	Frequenza di osservazione
Fatigue	Sempre

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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.

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