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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Aneurysm	Her zaman
Fainting spell	Her zaman
Hole in heart wall separating two lower heart chambers	Her zaman
Livedo racemosa	Her zaman
Patent ductus arteriosus	Her zaman
Varicose veins	Her zaman
Lacunar stroke	Çok sık (%80–99)
Bulge in wall of large artery that carries blood away from heart	Sık (%30–79)
Disruption of blood oxygen supply to brain	Sık (%30–79)
Mini stroke	Sık (%30–79)
Stroke	Sık (%30–79)
Aortic valve has two leaflets rather than three	Bazen (%5–29)
High blood pressure	Bazen (%5–29)
Ischemic stroke	Bazen (%5–29)
Livedo reticularis	Bazen (%5–29)
Narrowing of an artery	Bazen (%5–29)
Raynaud phenomenon	Bazen (%5–29)
Plaque build-up in arteries supplying blood to heart	Kaydedilmedi
Prominent veins	Kaydedilmedi
Vascular granular osmiophilic material deposition	Kaydedilmedi

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Nausea and vomiting	Her zaman
Poor swallowing	Her zaman
Abnormality of the intestine	Sık (%30–79)
Inguinal hernia	Sık (%30–79)
Prolonged yellowing of skin in newborn	Sık (%30–79)
Umbilical hernia	Sık (%30–79)
Abnormal connection between trachea and esophagus	Bazen (%5–29)
Cancer of the pancreas	Bazen (%5–29)
Intestinal obstruction	Bazen (%5–29)
Poor suck	Bazen (%5–29)
Acute pancreatic inflammation	Kaydedilmedi
Enlarged liver	Kaydedilmedi
Pseudobulbar paralysis	Kaydedilmedi

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Coarse hair	Her zaman
Firm lump under the skin	Çok sık (%80–99)
Skin cancer	Çok sık (%80–99)
Abnormality of the hair	Sık (%30–79)
Keloids	Sık (%30–79)
Irregular hyperpigmentation	Bazen (%5–29)
Open skin sore	Bazen (%5–29)
Patchy darkened skin	Bazen (%5–29)
Darkened and thickened skin	Kaydedilmedi
Increased fat below the skin in trunk	Kaydedilmedi
Yellow bumps of fatty deposits on skin	Kaydedilmedi

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Dizziness	Her zaman
Low-set ears	Her zaman
Absent ear canal	Çok sık (%80–99)
Conductive deafness	Çok sık (%80–99)
Ears rotated toward back of head	Çok sık (%80–99)
Abnormality of the middle ear ossicles	Sık (%30–79)
Sensorineural hearing impairment	Bazen (%5–29)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Abnormal levels of creatine kinase in blood	Her zaman
Fever	Her zaman
Diabetes mellitus	Bazen (%5–29)
High blood calcium levels	Bazen (%5–29)
High blood sugar	Kaydedilmedi
Increased plasma triglycerides	Kaydedilmedi
Insulin resistant diabetes	Kaydedilmedi

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Loss of bladder control	Her zaman
Bilateral cryptorchidism	Sık (%30–79)
Undescended testes	Sık (%30–79)
Abnormality of the kidney	Bazen (%5–29)
Lack of bladder control due to nervous system injury	Bazen (%5–29)
Stress urinary incontinence	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Caesarean section	Her zaman
High levels of amniotic fluid	Her zaman
Less than 10 fetal movements in 12 hours	Her zaman
Low levels of amniotic fluid	Sık (%30–79)
Placenta previa	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Faltering weight	Her zaman
Obesity	Her zaman
Short stature	Her zaman
Small for gestational age	Her zaman
Prenatal growth deficiency	Bazen (%5–29)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Excessive sweating of hands	Her zaman
Increased muscle tone of arm or leg	Her zaman
Abnormality of the wide portion of a long bone	Çok sık (%80–99)
Prominent fingertip pads	Bazen (%5–29)

Abnormal tissue mass

Trait	Ne sıklıkla görüldüğü
Cancer of connective tissue	Çok sık (%80–99)
Fibroma	Çok sık (%80–99)
Myofibromatosis	Kaydedilmedi

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Nocturnal hypoventilation	Her zaman
Lung cancer	Sık (%30–79)
Softening of voice box tissue	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Bleeding in brain	Bazen (%5–29)
Bleeding within the skull	Bazen (%5–29)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Infection in blood stream	Her zaman
Meningitis	Her zaman

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Underactive thyroid	Her zaman

Abnormality of the voice

Trait	Ne sıklıkla görüldüğü
Nasal speech	Her zaman

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Fatigue	Her zaman

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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