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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Aneurysm	Aina
Fainting spell	Aina
Hole in heart wall separating two lower heart chambers	Aina
Livedo racemosa	Aina
Patent ductus arteriosus	Aina
Varicose veins	Aina
Lacunar stroke	Hyvin usein (80–99%)
Bulge in wall of large artery that carries blood away from heart	Usein (30–79%)
Disruption of blood oxygen supply to brain	Usein (30–79%)
Mini stroke	Usein (30–79%)
Stroke	Usein (30–79%)
Aortic valve has two leaflets rather than three	Joskus (5–29%)
High blood pressure	Joskus (5–29%)
Ischemic stroke	Joskus (5–29%)
Livedo reticularis	Joskus (5–29%)
Narrowing of an artery	Joskus (5–29%)
Raynaud phenomenon	Joskus (5–29%)
Plaque build-up in arteries supplying blood to heart	Ei kirjattu
Prominent veins	Ei kirjattu
Vascular granular osmiophilic material deposition	Ei kirjattu

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Nausea and vomiting	Aina
Poor swallowing	Aina
Abnormality of the intestine	Usein (30–79%)
Inguinal hernia	Usein (30–79%)
Prolonged yellowing of skin in newborn	Usein (30–79%)
Umbilical hernia	Usein (30–79%)
Abnormal connection between trachea and esophagus	Joskus (5–29%)
Cancer of the pancreas	Joskus (5–29%)
Intestinal obstruction	Joskus (5–29%)
Poor suck	Joskus (5–29%)
Acute pancreatic inflammation	Ei kirjattu
Enlarged liver	Ei kirjattu
Pseudobulbar paralysis	Ei kirjattu

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Coarse hair	Aina
Firm lump under the skin	Hyvin usein (80–99%)
Skin cancer	Hyvin usein (80–99%)
Abnormality of the hair	Usein (30–79%)
Keloids	Usein (30–79%)
Irregular hyperpigmentation	Joskus (5–29%)
Open skin sore	Joskus (5–29%)
Patchy darkened skin	Joskus (5–29%)
Darkened and thickened skin	Ei kirjattu
Increased fat below the skin in trunk	Ei kirjattu
Yellow bumps of fatty deposits on skin	Ei kirjattu

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Dizziness	Aina
Low-set ears	Aina
Absent ear canal	Hyvin usein (80–99%)
Conductive deafness	Hyvin usein (80–99%)
Ears rotated toward back of head	Hyvin usein (80–99%)
Abnormality of the middle ear ossicles	Usein (30–79%)
Sensorineural hearing impairment	Joskus (5–29%)

Laboratory abnormality

Trait	Kuinka usein sitä esiintyy
Abnormal levels of creatine kinase in blood	Aina
Fever	Aina
Diabetes mellitus	Joskus (5–29%)
High blood calcium levels	Joskus (5–29%)
High blood sugar	Ei kirjattu
Increased plasma triglycerides	Ei kirjattu
Insulin resistant diabetes	Ei kirjattu

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Loss of bladder control	Aina
Bilateral cryptorchidism	Usein (30–79%)
Undescended testes	Usein (30–79%)
Abnormality of the kidney	Joskus (5–29%)
Lack of bladder control due to nervous system injury	Joskus (5–29%)
Stress urinary incontinence	Joskus (5–29%)

Abnormality of prenatal development or birth

Trait	Kuinka usein sitä esiintyy
Caesarean section	Aina
High levels of amniotic fluid	Aina
Less than 10 fetal movements in 12 hours	Aina
Low levels of amniotic fluid	Usein (30–79%)
Placenta previa	Joskus (5–29%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Faltering weight	Aina
Obesity	Aina
Short stature	Aina
Small for gestational age	Aina
Prenatal growth deficiency	Joskus (5–29%)

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Excessive sweating of hands	Aina
Increased muscle tone of arm or leg	Aina
Abnormality of the wide portion of a long bone	Hyvin usein (80–99%)
Prominent fingertip pads	Joskus (5–29%)

Abnormal tissue mass

Trait	Kuinka usein sitä esiintyy
Cancer of connective tissue	Hyvin usein (80–99%)
Fibroma	Hyvin usein (80–99%)
Myofibromatosis	Ei kirjattu

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Nocturnal hypoventilation	Aina
Lung cancer	Usein (30–79%)
Softening of voice box tissue	Joskus (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Bleeding in brain	Joskus (5–29%)
Bleeding within the skull	Joskus (5–29%)

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Infection in blood stream	Aina
Meningitis	Aina

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Underactive thyroid	Aina

Abnormality of the voice

Trait	Kuinka usein sitä esiintyy
Nasal speech	Aina

Constitutional symptom

Trait	Kuinka usein sitä esiintyy
Fatigue	Aina

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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.

Yksi testi. Vastauksia koko elämäksi.

Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa

Tilaa Genome Test