Traits

Traits linked to NBN

nibrin

The Human Phenotype Ontology links 110 traits to NBN, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Downward slanting of the opening between the eyelids	Always
High palate	Always
Little lower jaw	Always
Long philtrum	Always
Midface retrusion	Always
Narrow forehead	Always
Prominent nose	Always
Receding chin	Always
Sloping forehead	Always
Small head present at birth	Always
Smooth philtrum	Always
Upward slanting of the opening between the eyelids	Always
Wide nasal bridge	Always
Abnormality of the face	Very often (80–99%)
Beaked nose	Very often (80–99%)
Deep philtrum	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Low frontal hairline	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Short neck	Very often (80–99%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Often (30–79%)
Abnormality of the eyelid	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Non-midline cleft of the upper lip	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Not recorded
Cleft upper lip	Not recorded
Long nose	Not recorded
Malar prominence	Not recorded
Mastoiditis	Not recorded
Sinus disease	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Aplastic anemia	Always
Decreased blood lymphocyte number	Always
Elevated white blood count	Always
T-cell lymphoma	Always
Autoimmune hemolytic anemia	Very often (80–99%)
Hemolytic anemia	Very often (80–99%)
Low platelet count	Very often (80–99%)
Acute blood cancer	Sometimes (5–29%)
B-cell lymphoma	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Acute lymphoblastic leukemia	Not recorded
Bone marrow failure	Not recorded
Low B cell count	Not recorded
Low T cell count	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Mental deterioration	Very often (80–99%)
Abnormality of neuronal migration	Sometimes (5–29%)
Glioma	Sometimes (5–29%)
Intellectual disability	Not recorded
Medulloblastoma	Not recorded
More active than typical	Not recorded
Ongoing loss of nerve cells	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Very often (80–99%)
Anorectal anomaly	Very often (80–99%)
Chronic diarrhea	Very often (80–99%)
Narrowing of anal opening	Very often (80–99%)
Primary peritoneal carcinoma	Very often (80–99%)
Cancer of the pancreas	Sometimes (5–29%)
Diarrhea	Not recorded
Recurrent infection of the gastrointestinal tract	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal fallopian tube morphology	Very often (80–99%)
Ovarian cancer	Very often (80–99%)
Constant urination	Often (30–79%)
Frequent urinary tract infections	Sometimes (5–29%)
Prostate cancer	Sometimes (5–29%)
Early menopause	Not recorded
Hydronephrosis	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Chromosome breakage	Always
Decreased circulating IgA concentration	Always
Decreased circulating IgE concentration	Always
Decreased circulating IgG concentration	Always
Decreased circulating IgM concentration	Always
Abnormality of chromosome stability	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Abnormal hair quantity	Very often (80–99%)
Abnormality of the hair	Very often (80–99%)
Freckling	Sometimes (5–29%)
Photosensitive skin	Sometimes (5–29%)
Birthmark	Not recorded
Progressive vitiligo	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Always
Recurrent respiratory infections	Always
Recurrent pneumonia	Very often (80–99%)
Recurrent sinus and lung infections	Very often (80–99%)
Recurrent bronchitis	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Muscle degeneration	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Muscular abnormality	Sometimes (5–29%)
Rhabdomyosarcoma	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Always
Thickened helices	Always
Hearing abnormality	Very often (80–99%)
Recurrent middle ear infection	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Prenatal growth deficiency	Always
Short stature	Very often (80–99%)
Wasting syndrome	Very often (80–99%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Often (30–79%)
Cancer of skin pigment cells	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Gap between 1st and 2nd toes	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Retinal pigment epithelial mottling	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	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 NBN and how often each is seen. Find out more at hpo.jax.org.

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