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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Appendicular spasticity	Alltid
Double-Jointed	Alltid
Low muscle tone	Alltid
Low muscle tone in trunk	Alltid
Lower limb spasticity	Alltid
Spastic tetraparesis	Alltid
Thoracic scoliosis	Alltid
Bone cyst	Svært ofte (80–99 %)
Muscular abnormality	Svært ofte (80–99 %)
Scoliosis	Svært ofte (80–99 %)
Abnormal vertebral body morphology	Ofte (30–79 %)
Abnormality of the chest	Ofte (30–79 %)
Calcium deposits in joints	Ofte (30–79 %)
Decreased muscle mass	Ofte (30–79 %)
Funnel chest	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Vertebral fusion	Ofte (30–79 %)
Abnormal sacrum morphology	Noen ganger (5–29 %)
Breakdown of bone	Noen ganger (5–29 %)
Congenital diaphragmatic hernia	Noen ganger (5–29 %)
Hunched back	Noen ganger (5–29 %)
Limitation of joint mobility	Noen ganger (5–29 %)
Prominent swayback	Noen ganger (5–29 %)
Biconcave vertebral bodies	Ikke registrert
Inability to make and keep healthy fat tissue	Ikke registrert
Loss of fat tissue below the skin in gluts	Ikke registrert
Loss of fat tissue below the skin in limbs	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Aneurysm	Alltid
Fainting spell	Alltid
Hole in heart wall separating two lower heart chambers	Alltid
Livedo racemosa	Alltid
Patent ductus arteriosus	Alltid
Varicose veins	Alltid
Lacunar stroke	Svært ofte (80–99 %)
Bulge in wall of large artery that carries blood away from heart	Ofte (30–79 %)
Disruption of blood oxygen supply to brain	Ofte (30–79 %)
Mini stroke	Ofte (30–79 %)
Stroke	Ofte (30–79 %)
Aortic valve has two leaflets rather than three	Noen ganger (5–29 %)
High blood pressure	Noen ganger (5–29 %)
Ischemic stroke	Noen ganger (5–29 %)
Livedo reticularis	Noen ganger (5–29 %)
Narrowing of an artery	Noen ganger (5–29 %)
Raynaud phenomenon	Noen ganger (5–29 %)
Plaque build-up in arteries supplying blood to heart	Ikke registrert
Prominent veins	Ikke registrert
Vascular granular osmiophilic material deposition	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Nausea and vomiting	Alltid
Poor swallowing	Alltid
Abnormality of the intestine	Ofte (30–79 %)
Inguinal hernia	Ofte (30–79 %)
Prolonged yellowing of skin in newborn	Ofte (30–79 %)
Umbilical hernia	Ofte (30–79 %)
Abnormal connection between trachea and esophagus	Noen ganger (5–29 %)
Cancer of the pancreas	Noen ganger (5–29 %)
Intestinal obstruction	Noen ganger (5–29 %)
Poor suck	Noen ganger (5–29 %)
Acute pancreatic inflammation	Ikke registrert
Enlarged liver	Ikke registrert
Pseudobulbar paralysis	Ikke registrert

Abnormality of the integument

Trait	Hvor ofte den forekommer
Coarse hair	Alltid
Firm lump under the skin	Svært ofte (80–99 %)
Skin cancer	Svært ofte (80–99 %)
Abnormality of the hair	Ofte (30–79 %)
Keloids	Ofte (30–79 %)
Irregular hyperpigmentation	Noen ganger (5–29 %)
Open skin sore	Noen ganger (5–29 %)
Patchy darkened skin	Noen ganger (5–29 %)
Darkened and thickened skin	Ikke registrert
Increased fat below the skin in trunk	Ikke registrert
Yellow bumps of fatty deposits on skin	Ikke registrert

Abnormality of the ear

Trait	Hvor ofte den forekommer
Dizziness	Alltid
Low-set ears	Alltid
Absent ear canal	Svært ofte (80–99 %)
Conductive deafness	Svært ofte (80–99 %)
Ears rotated toward back of head	Svært ofte (80–99 %)
Abnormality of the middle ear ossicles	Ofte (30–79 %)
Sensorineural hearing impairment	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Abnormal levels of creatine kinase in blood	Alltid
Fever	Alltid
Diabetes mellitus	Noen ganger (5–29 %)
High blood calcium levels	Noen ganger (5–29 %)
High blood sugar	Ikke registrert
Increased plasma triglycerides	Ikke registrert
Insulin resistant diabetes	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Loss of bladder control	Alltid
Bilateral cryptorchidism	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Abnormality of the kidney	Noen ganger (5–29 %)
Lack of bladder control due to nervous system injury	Noen ganger (5–29 %)
Stress urinary incontinence	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Caesarean section	Alltid
High levels of amniotic fluid	Alltid
Less than 10 fetal movements in 12 hours	Alltid
Low levels of amniotic fluid	Ofte (30–79 %)
Placenta previa	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Alltid
Obesity	Alltid
Short stature	Alltid
Small for gestational age	Alltid
Prenatal growth deficiency	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Excessive sweating of hands	Alltid
Increased muscle tone of arm or leg	Alltid
Abnormality of the wide portion of a long bone	Svært ofte (80–99 %)
Prominent fingertip pads	Noen ganger (5–29 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Cancer of connective tissue	Svært ofte (80–99 %)
Fibroma	Svært ofte (80–99 %)
Myofibromatosis	Ikke registrert

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Nocturnal hypoventilation	Alltid
Lung cancer	Ofte (30–79 %)
Softening of voice box tissue	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Bleeding in brain	Noen ganger (5–29 %)
Bleeding within the skull	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Infection in blood stream	Alltid
Meningitis	Alltid

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Underactive thyroid	Alltid

Abnormality of the voice

Trait	Hvor ofte den forekommer
Nasal speech	Alltid

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Alltid

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test