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

Abnormality of head or neck

Trait	How often it is seen
Drooling	Always
Little lower jaw	Always
Small head present at birth	Always
Zygomatic flattening	Always
Downward slanting of the opening between the eyelids	Very often (80–99%)
Extra bones within cranial sutures	Very often (80–99%)
High palate	Very often (80–99%)
High, narrow palate	Very often (80–99%)
Long, narrow head	Very often (80–99%)
Narrow face	Very often (80–99%)
Abnormality of the face	Often (30–79%)
Abnormality of the skull	Often (30–79%)
Abnormally small head	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Dental crowding	Often (30–79%)
Enlargement of craniofacial bones	Often (30–79%)
Gingival fibromatosis	Often (30–79%)
Increased thickness of skull cap	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Monobrow	Often (30–79%)
Prominent metopic ridge	Often (30–79%)
Short neck	Often (30–79%)
Smooth philtrum	Often (30–79%)
Big calvaria	Sometimes (5–29%)
Broad opening between the eyelids	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Coarse facial features	Sometimes (5–29%)
Cystic hygroma	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Facial diplegia	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Narrow eyelid opening	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Round face	Sometimes (5–29%)
Short opening between the eyelids	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Dense bone of skull base	Not recorded
Flattening of the skull base	Not recorded
Increased amount of facial fat	Not recorded
Increased fat around the neck	Not recorded
Short nasal bridge	Not recorded

Abnormality of the eye

Trait	How often it is seen
Damaged optic nerve	Always
Drooping upper eyelid	Always
Esodeviation	Always
Horizontal nystagmus	Always
Involuntary, rapid, rhythmic eye movements	Always
Moderate hypermetropia	Always
Noninflammatory retina disease	Always
Oculomotor apraxia	Always
Wide-set eyes	Often (30–79%)
Abnormality of the eye	Sometimes (5–29%)
Anisometropia	Sometimes (5–29%)
Anterior synechiae of the anterior chamber	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Bulging eye	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping of both upper eyelids	Sometimes (5–29%)
Dropping of one upper eyelid	Sometimes (5–29%)
Epiretinal membrane	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Posterior vitreous detachment	Sometimes (5–29%)
Retinal cotton wool spot	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Abnormal electroretinogram	Not recorded
Abnormality of visual evoked potentials	Not recorded
Nonarteritic anterior ischemic optic neuropathy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Appendicular spasticity	Always
Double-Jointed	Always
Low muscle tone	Always
Low muscle tone in trunk	Always
Lower limb spasticity	Always
Spastic tetraparesis	Always
Thoracic scoliosis	Always
Bone cyst	Very often (80–99%)
Muscular abnormality	Very often (80–99%)
Scoliosis	Very often (80–99%)
Abnormal vertebral body morphology	Often (30–79%)
Abnormality of the chest	Often (30–79%)
Calcium deposits in joints	Often (30–79%)
Decreased muscle mass	Often (30–79%)
Funnel chest	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Vertebral fusion	Often (30–79%)
Abnormal sacrum morphology	Sometimes (5–29%)
Breakdown of bone	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Biconcave vertebral bodies	Not recorded
Inability to make and keep healthy fat tissue	Not recorded
Loss of fat tissue below the skin in gluts	Not recorded
Loss of fat tissue below the skin in limbs	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Aneurysm	Always
Fainting spell	Always
Hole in heart wall separating two lower heart chambers	Always
Livedo racemosa	Always
Patent ductus arteriosus	Always
Varicose veins	Always
Lacunar stroke	Very often (80–99%)
Bulge in wall of large artery that carries blood away from heart	Often (30–79%)
Disruption of blood oxygen supply to brain	Often (30–79%)
Mini stroke	Often (30–79%)
Stroke	Often (30–79%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Livedo reticularis	Sometimes (5–29%)
Narrowing of an artery	Sometimes (5–29%)
Raynaud phenomenon	Sometimes (5–29%)
Plaque build-up in arteries supplying blood to heart	Not recorded
Prominent veins	Not recorded
Vascular granular osmiophilic material deposition	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Nausea and vomiting	Always
Poor swallowing	Always
Abnormality of the intestine	Often (30–79%)
Inguinal hernia	Often (30–79%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Umbilical hernia	Often (30–79%)
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Cancer of the pancreas	Sometimes (5–29%)
Intestinal obstruction	Sometimes (5–29%)
Poor suck	Sometimes (5–29%)
Acute pancreatic inflammation	Not recorded
Enlarged liver	Not recorded
Pseudobulbar paralysis	Not recorded

Abnormality of the integument

Trait	How often it is seen
Coarse hair	Always
Firm lump under the skin	Very often (80–99%)
Skin cancer	Very often (80–99%)
Abnormality of the hair	Often (30–79%)
Keloids	Often (30–79%)
Irregular hyperpigmentation	Sometimes (5–29%)
Open skin sore	Sometimes (5–29%)
Patchy darkened skin	Sometimes (5–29%)
Darkened and thickened skin	Not recorded
Increased fat below the skin in trunk	Not recorded
Yellow bumps of fatty deposits on skin	Not recorded

Abnormality of the ear

Trait	How often it is seen
Dizziness	Always
Low-set ears	Always
Absent ear canal	Very often (80–99%)
Conductive deafness	Very often (80–99%)
Ears rotated toward back of head	Very often (80–99%)
Abnormality of the middle ear ossicles	Often (30–79%)
Sensorineural hearing impairment	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormal levels of creatine kinase in blood	Always
Fever	Always
Diabetes mellitus	Sometimes (5–29%)
High blood calcium levels	Sometimes (5–29%)
High blood sugar	Not recorded
Increased plasma triglycerides	Not recorded
Insulin resistant diabetes	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Always
Bilateral cryptorchidism	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormality of the kidney	Sometimes (5–29%)
Lack of bladder control due to nervous system injury	Sometimes (5–29%)
Stress urinary incontinence	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Caesarean section	Always
High levels of amniotic fluid	Always
Less than 10 fetal movements in 12 hours	Always
Low levels of amniotic fluid	Often (30–79%)
Placenta previa	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Obesity	Always
Short stature	Always
Small for gestational age	Always
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Excessive sweating of hands	Always
Increased muscle tone of arm or leg	Always
Abnormality of the wide portion of a long bone	Very often (80–99%)
Prominent fingertip pads	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Cancer of connective tissue	Very often (80–99%)
Fibroma	Very often (80–99%)
Myofibromatosis	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Nocturnal hypoventilation	Always
Lung cancer	Often (30–79%)
Softening of voice box tissue	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Sometimes (5–29%)
Bleeding within the skull	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Always
Meningitis	Always

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Always

Constitutional symptom

Trait	How often it is seen
Fatigue	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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