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	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Dural ectasia	Mycket ofta (80–99 %)
Increased reflexes	Mycket ofta (80–99 %)
Meningocele	Mycket ofta (80–99 %)
Multifocal hyperintensity of cerebral white matter on MRI	Mycket ofta (80–99 %)
Ataxia	Ofta (30–79 %)
Can't control feelings	Ofta (30–79 %)
Clonus	Ofta (30–79 %)
Delayed ability to walk	Ofta (30–79 %)
Dementia	Ofta (30–79 %)
Difficulty articulating speech	Ofta (30–79 %)
EEG abnormality	Ofta (30–79 %)
Epilepsy	Ofta (30–79 %)
Fluid-filled cyst in spinal cord	Ofta (30–79 %)
Grand mal seizures	Ofta (30–79 %)
Headache	Ofta (30–79 %)
Intellectual disability	Ofta (30–79 %)
Lack of feeling, emotion, interest	Ofta (30–79 %)
Migraine with aura	Ofta (30–79 %)
Motor delay	Ofta (30–79 %)
Obstructive sleep apnea	Ofta (30–79 %)
Weakness of one side of body	Ofta (30–79 %)
Abnormal gait	Ibland (5–29 %)
Absent speech development	Ibland (5–29 %)
Anxiety	Ibland (5–29 %)
Benign neoplasm of the central nervous system	Ibland (5–29 %)
Chiari malformation	Ibland (5–29 %)
Chiari type I malformation	Ibland (5–29 %)
Confusion	Ibland (5–29 %)
Depression	Ibland (5–29 %)
Encephalopathy	Ibland (5–29 %)
Impaired visuospatial constructive cognition	Ibland (5–29 %)
Language impairment	Ibland (5–29 %)
Loss of consciousness	Ibland (5–29 %)
Mental slowness	Ibland (5–29 %)
Paralysis or weakness of one side of body	Ibland (5–29 %)
Parkinsonism	Ibland (5–29 %)
Peripheral neuropathy	Ibland (5–29 %)
Progressive degeneration of movement	Ibland (5–29 %)
Recurrent subcortical infarcts	Ibland (5–29 %)
Tethered cord	Ibland (5–29 %)
Too much cerebrospinal fluid in the brain	Ibland (5–29 %)
Behavioral abnormality	Inte registrerat
Fluid-filled sac located in membrane surrounding brain or spinal cord	Inte registrerat
Subcortical dementia	Inte registrerat

Abnormality of head or neck

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

Abnormality of the eye

Trait	Hur ofta den förekommer
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	Ofta (30–79 %)
Abnormality of the eye	Ibland (5–29 %)
Anisometropia	Ibland (5–29 %)
Anterior synechiae of the anterior chamber	Ibland (5–29 %)
Astigmatism	Ibland (5–29 %)
Bulging eye	Ibland (5–29 %)
Cat eye	Ibland (5–29 %)
Cross-eyed	Ibland (5–29 %)
Drooping of both upper eyelids	Ibland (5–29 %)
Dropping of one upper eyelid	Ibland (5–29 %)
Epiretinal membrane	Ibland (5–29 %)
Farsightedness	Ibland (5–29 %)
Posterior vitreous detachment	Ibland (5–29 %)
Retinal cotton wool spot	Ibland (5–29 %)
Visual impairment	Ibland (5–29 %)
Visual loss	Ibland (5–29 %)
Abnormal electroretinogram	Inte registrerat
Abnormality of visual evoked potentials	Inte registrerat
Nonarteritic anterior ischemic optic neuropathy	Inte registrerat

Abnormality of the musculoskeletal system

Trait	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Muscular abnormality	Mycket ofta (80–99 %)
Scoliosis	Mycket ofta (80–99 %)
Abnormal vertebral body morphology	Ofta (30–79 %)
Abnormality of the chest	Ofta (30–79 %)
Calcium deposits in joints	Ofta (30–79 %)
Decreased muscle mass	Ofta (30–79 %)
Funnel chest	Ofta (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofta (30–79 %)
Vertebral fusion	Ofta (30–79 %)
Abnormal sacrum morphology	Ibland (5–29 %)
Breakdown of bone	Ibland (5–29 %)
Congenital diaphragmatic hernia	Ibland (5–29 %)
Hunched back	Ibland (5–29 %)
Limitation of joint mobility	Ibland (5–29 %)
Prominent swayback	Ibland (5–29 %)
Biconcave vertebral bodies	Inte registrerat
Inability to make and keep healthy fat tissue	Inte registrerat
Loss of fat tissue below the skin in gluts	Inte registrerat
Loss of fat tissue below the skin in limbs	Inte registrerat

Abnormality of the cardiovascular system

Trait	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Bulge in wall of large artery that carries blood away from heart	Ofta (30–79 %)
Disruption of blood oxygen supply to brain	Ofta (30–79 %)
Mini stroke	Ofta (30–79 %)
Stroke	Ofta (30–79 %)
Aortic valve has two leaflets rather than three	Ibland (5–29 %)
High blood pressure	Ibland (5–29 %)
Ischemic stroke	Ibland (5–29 %)
Livedo reticularis	Ibland (5–29 %)
Narrowing of an artery	Ibland (5–29 %)
Raynaud phenomenon	Ibland (5–29 %)
Plaque build-up in arteries supplying blood to heart	Inte registrerat
Prominent veins	Inte registrerat
Vascular granular osmiophilic material deposition	Inte registrerat

Abnormality of the digestive system

Trait	Hur ofta den förekommer
Nausea and vomiting	Alltid
Poor swallowing	Alltid
Abnormality of the intestine	Ofta (30–79 %)
Inguinal hernia	Ofta (30–79 %)
Prolonged yellowing of skin in newborn	Ofta (30–79 %)
Umbilical hernia	Ofta (30–79 %)
Abnormal connection between trachea and esophagus	Ibland (5–29 %)
Cancer of the pancreas	Ibland (5–29 %)
Intestinal obstruction	Ibland (5–29 %)
Poor suck	Ibland (5–29 %)
Acute pancreatic inflammation	Inte registrerat
Enlarged liver	Inte registrerat
Pseudobulbar paralysis	Inte registrerat

Abnormality of the integument

Trait	Hur ofta den förekommer
Coarse hair	Alltid
Firm lump under the skin	Mycket ofta (80–99 %)
Skin cancer	Mycket ofta (80–99 %)
Abnormality of the hair	Ofta (30–79 %)
Keloids	Ofta (30–79 %)
Irregular hyperpigmentation	Ibland (5–29 %)
Open skin sore	Ibland (5–29 %)
Patchy darkened skin	Ibland (5–29 %)
Darkened and thickened skin	Inte registrerat
Increased fat below the skin in trunk	Inte registrerat
Yellow bumps of fatty deposits on skin	Inte registrerat

Abnormality of the ear

Trait	Hur ofta den förekommer
Dizziness	Alltid
Low-set ears	Alltid
Absent ear canal	Mycket ofta (80–99 %)
Conductive deafness	Mycket ofta (80–99 %)
Ears rotated toward back of head	Mycket ofta (80–99 %)
Abnormality of the middle ear ossicles	Ofta (30–79 %)
Sensorineural hearing impairment	Ibland (5–29 %)

Laboratory abnormality

Trait	Hur ofta den förekommer
Abnormal levels of creatine kinase in blood	Alltid
Fever	Alltid
Diabetes mellitus	Ibland (5–29 %)
High blood calcium levels	Ibland (5–29 %)
High blood sugar	Inte registrerat
Increased plasma triglycerides	Inte registrerat
Insulin resistant diabetes	Inte registrerat

Abnormality of the genitourinary system

Trait	Hur ofta den förekommer
Loss of bladder control	Alltid
Bilateral cryptorchidism	Ofta (30–79 %)
Undescended testes	Ofta (30–79 %)
Abnormality of the kidney	Ibland (5–29 %)
Lack of bladder control due to nervous system injury	Ibland (5–29 %)
Stress urinary incontinence	Ibland (5–29 %)

Abnormality of prenatal development or birth

Trait	Hur ofta den förekommer
Caesarean section	Alltid
High levels of amniotic fluid	Alltid
Less than 10 fetal movements in 12 hours	Alltid
Low levels of amniotic fluid	Ofta (30–79 %)
Placenta previa	Ibland (5–29 %)

Growth abnormality

Trait	Hur ofta den förekommer
Faltering weight	Alltid
Obesity	Alltid
Short stature	Alltid
Small for gestational age	Alltid
Prenatal growth deficiency	Ibland (5–29 %)

Abnormality of limbs

Trait	Hur ofta den förekommer
Excessive sweating of hands	Alltid
Increased muscle tone of arm or leg	Alltid
Abnormality of the wide portion of a long bone	Mycket ofta (80–99 %)
Prominent fingertip pads	Ibland (5–29 %)

Abnormal tissue mass

Trait	Hur ofta den förekommer
Cancer of connective tissue	Mycket ofta (80–99 %)
Fibroma	Mycket ofta (80–99 %)
Myofibromatosis	Inte registrerat

Abnormality of the respiratory system

Trait	Hur ofta den förekommer
Nocturnal hypoventilation	Alltid
Lung cancer	Ofta (30–79 %)
Softening of voice box tissue	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hur ofta den förekommer
Bleeding in brain	Ibland (5–29 %)
Bleeding within the skull	Ibland (5–29 %)

Abnormality of the immune system

Trait	Hur ofta den förekommer
Infection in blood stream	Alltid
Meningitis	Alltid

Abnormality of the endocrine system

Trait	Hur ofta den förekommer
Underactive thyroid	Alltid

Abnormality of the voice

Trait	Hur ofta den förekommer
Nasal speech	Alltid

Constitutional symptom

Trait	Hur ofta den förekommer
Fatigue	Alltid

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

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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