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Traits
Traits linked to NOTCH2
notch receptor 2
The Human Phenotype Ontology links 129 traits to NOTCH2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormal skeletal development | Very often (80–99%) |
| Breakdown of bone | Very often (80–99%) |
| Osteopenia | Very often (80–99%) |
| Osteoporosis | Very often (80–99%) |
| Biconcave vertebral bodies | Often (30–79%) |
| Bone pain | Often (30–79%) |
| Compression fracture of a vertebral body | Often (30–79%) |
| Double-Jointed | Often (30–79%) |
| Recurrent fractures | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| Underdeveloped 5th lumbar vertebrae | Often (30–79%) |
| Hernia | Sometimes (5–29%) |
| Hunched back | Sometimes (5–29%) |
| Pigeon chest | Sometimes (5–29%) |
| Cervical instability | Not recorded |
| Kyphoscoliosis | Not recorded |
| Spontaneous fracture | Not recorded |
| Tall lumbar vertebral bodies | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Foot acroosteolysis | Very often (80–99%) |
| Partial absence of toe | Very often (80–99%) |
| Short fingers or toes | Very often (80–99%) |
| Short outermost finger bone | Very often (80–99%) |
| Short toe | Very often (80–99%) |
| Bowed calf bone | Sometimes (5–29%) |
| Bowing of the long bones | Sometimes (5–29%) |
| Coarse metaphyseal trabecularization | Sometimes (5–29%) |
| Dislocated kneecap | Sometimes (5–29%) |
| Breakdown of small bones of fingers | Not recorded |
| Crowded wrist bones | Not recorded |
| Dislocated radial head | Not recorded |
| Knock knees | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiovascular system morphology | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Increased spleen size | Sometimes (5–29%) |
| Mitral stenosis | Sometimes (5–29%) |
| Narrowing of aortic valve | Sometimes (5–29%) |
| Patent ductus arteriosus | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Not recorded |
| High blood pressure | Not recorded |
| Narrowing of peripheral lung artery | Not recorded |
| Narrowing of pulmonic valve | Not recorded |
| Tetralogy of Fallot | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Abnormal fingernails | Often (30–79%) |
| Excessive hairiness over body | Often (30–79%) |
| Coarse hair | Sometimes (5–29%) |
| Dry skin | Sometimes (5–29%) |
| Open skin sore | Sometimes (5–29%) |
| Thickened skin | Sometimes (5–29%) |
| Excessive hairiness | Not recorded |
| Short nail | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Hypospadias | Sometimes (5–29%) |
| Multiple kidney cysts | Sometimes (5–29%) |
| Polycystic kidney dysplasia | Sometimes (5–29%) |
| Cystic kidney disease | Not recorded |
| Renal failure | Not recorded |
| Small kidneys | Not recorded |
| Undescended testes | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Sometimes (5–29%) |
| Inguinal hernia | Sometimes (5–29%) |
| Intestinal malrotation | Sometimes (5–29%) |
| Umbilical hernia | Sometimes (5–29%) |
| Cholestatic liver disease | Not recorded |
| Slowed or blocked flow of bile from liver | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Always |
| Cat eye | Sometimes (5–29%) |
| Close sighted | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Posterior embryotoxon | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Chiari malformation | Often (30–79%) |
| Fluid-filled cyst in spinal cord | Sometimes (5–29%) |
| Headache | Sometimes (5–29%) |
| Peripheral neuropathy | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Conductive deafness | Always |
| Low-set ears | Always |
| Hearing impairment | Often (30–79%) |
| Large earlobe | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Accumulation of acid in body due to kidney problem | Not recorded |
| Blood in urine | Not recorded |
| High urine protein levels | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Very often (80–99%) |
| Faltering weight | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Delayed puberty | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent respiratory infections | Sometimes (5–29%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Abnormality of the voice | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Joint pain | Often (30–79%) |
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 NOTCH2 and how often each is seen. Find out more at hpo.jax.org.
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