Traits

Traits linked to KNSTRN

kinetochore localized astrin (SPAG5) binding protein

The Human Phenotype Ontology links 76 traits to KNSTRN, by body system: features seen in people with one of the gene's rare conditions.

KNSTRN

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Often (30–79%)
Abnormality of the chin	Often (30–79%)
Baggy eyes	Often (30–79%)
Broad nasal tip	Often (30–79%)
Chronic oral thrush	Often (30–79%)
Decreased volume of lower lip	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
Fullness of eyelids	Often (30–79%)
High forehead	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Myopathic facies	Often (30–79%)
Narrowing of the tear duct	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Flat forehead	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Short neck	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Combined immunodeficiency	Often (30–79%)
Decreased specific antibody response to vaccination	Often (30–79%)
Psoriasiform dermatitis	Often (30–79%)
Recurrent aspiration pneumonia	Often (30–79%)
Recurrent bacterial infections	Often (30–79%)
Recurrent ear infections	Often (30–79%)
Recurrent fungal infections	Often (30–79%)
Recurrent viral infections	Often (30–79%)
Pneumonia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad middle finger bones	Often (30–79%)
Curvature of index finger	Often (30–79%)
Curvature of middle finger	Often (30–79%)
Curvature of ring finger	Often (30–79%)
High-arched foot	Often (30–79%)
Short outermost bone of the thumb	Often (30–79%)
Short long bone of foot	Not recorded
Shortened long bone of hand	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Intention tremor	Often (30–79%)
Positive Romberg sign	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Disorder of involuntary muscle movements	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Chronic decreased circulating IgA concentration	Often (30–79%)
Decreased anti-CD3/28-induced T-cell proliferation	Often (30–79%)
Decreased circulating antibody level	Often (30–79%)
Decreased circulating IgM concentration	Often (30–79%)
Decreased circulating total IgG concentration	Often (30–79%)
Decreased mitogen-induced T-cell proliferation	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the skeletal system	Often (30–79%)
Arthritis	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Low muscle tone, in neonatal onset	Often (30–79%)
Osteopenia	Often (30–79%)
Prominent swayback	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal T cell subset number	Often (30–79%)
Decreased total CD4+ T cell proportion	Often (30–79%)
Low B cell count	Often (30–79%)
Reduced total natural killer cell count	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Nasogastric tube feeding	Often (30–79%)
Umbilical hernia	Often (30–79%)
Diarrhea	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Often (30–79%)
Optic nerve hypoplasia	Often (30–79%)
Wide-set eyes	Often (30–79%)
Optic atrophy	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Frequent urinary tract infections	Often (30–79%)
Abnormal kidney location	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Often (30–79%)
Patchy darkened skin	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aberrant right subclavian artery	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Prominent ear	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	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 KNSTRN and how often each is seen. Find out more at hpo.jax.org.

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