Traits

Traits linked to GINS3

GINS complex subunit 3

The Human Phenotype Ontology links 46 traits to GINS3, 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
Bulbous nose	Always
Delayed cranial suture closure	Always
Delayed eruption of teeth	Always
Development of small head that was not present at birth	Always
Extra bones within cranial sutures	Always
Full lower lip	Always
Long nose	Always
Small head present at birth	Always
Prominent nose	Very often (80–99%)
Little lower jaw	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Funnel chest	Always
Delayed bone maturation	Often (30–79%)
Basal ganglia calcification	Sometimes (5–29%)
Subcortical white matter calcifications	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad outermost wide portion of thighbone	Always
Irregular wide portion of a long bone	Always
Absent kneecap	Often (30–79%)
Curvature of digit	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Small ears	Always
Hearing impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Smaller than typical growth of scrotum	Always
Undescended testes	Always
Hypospadias	Often (30–79%)
Kidney stone	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	Always
Prenatal growth deficiency	Very often (80–99%)
Short stature	Very often (80–99%)
Faltering weight	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood lymphocyte number	Always
Low blood neutrophil count	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Chronic diarrhea	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Often (30–79%)
Recurrent infections	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Increased nail curvature	Always
Birthmark	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Always
Delayed speech and language development	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged heart	Always

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Partial or complete collapse of part or entire lung	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 GINS3 and how often each is seen. Find out more at hpo.jax.org.

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