Traits

Traits linked to DONSON

DNA replication fork stabilization factor DONSON

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

DONSON

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Beaked nose	Always
Depressed nasal bridge	Always
Downward slanting of the opening between the eyelids	Always
Flat face	Always
Flat forehead	Always
Full lips	Always
Full lower lip	Always
Full upper lip	Always
High forehead	Always
Limited hair on end of eyebrow	Always
Long neck	Always
Low hairline at back of neck	Always
Narrow mouth	Always
Short neck	Always
Short opening between the eyelids	Always
Small face	Always
Small retruded chin	Always
Smooth philtrum	Always
Sparse eyebrow	Always
Sparse scalp hair	Always
Triangular face	Always
Decreased size of maxilla	Often (30–79%)
Little lower jaw	Often (30–79%)
Long eyelashes	Often (30–79%)
High palate	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Submucous cleft soft palate	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Cleft palate	Not recorded
Cystic hygroma	Not recorded
Deformity of the skull	Not recorded
Wide nose	Not recorded

Abnormality of limbs

Trait	How often it is seen
Absent kneecap	Always
Acetabular dysplasia	Always
Bunion	Always
Clubbing of fingers and toes	Always
Curvature of little finger	Always
Dislocated knee since birth	Always
Dislocated radial head	Always
Fused toes	Always
Hip dislocation	Always
Hip flexion contracture	Always
Inability to straighten knee	Always
Knee dislocation	Always
Limited pronation/supination of forearm	Always
Short fingers or toes	Always
Talipes varus	Always
Tapered finger	Always
Club feet	Often (30–79%)
Disproportionately short middle portion of limb	Sometimes (5–29%)
Shortened long bone of hand	Sometimes (5–29%)
Small kneecap	Sometimes (5–29%)
Fused forearm bones	Rarely (1–4%)
Underdeveloped outer large forearm bone	Rarely (1–4%)
Absent thumb	Not recorded
Forearm undergrowth	Not recorded
Fusion of upper and lower arm bones	Not recorded
Missing outer large bone of forearm	Not recorded
Oligodactyly	Not recorded
Short shinbone	Not recorded
Smaller or shorter than typical limbs	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal craniofacial muscle tone	Always
Delayed ability to walk	Always
Inability to walk	Always
Intellectual disability, mild	Always
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Motor delay	Often (30–79%)
Intellectual disability	Sometimes (5–29%)
Simplified gyral pattern	Rarely (1–4%)
Aplasia/Hypoplasia of the corpus callosum	Not recorded
Aqueductal stenosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Narrow chest	Always
Radial head subluxation	Always
Slender long bone	Always
Thin ribs	Always
11 pairs of ribs	Rarely (1–4%)
Missing ribs	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Enlarged clitoris	Always
Short penis	Always
Small labia majora	Always
Small uterus	Always
Undescended testes	Always

Growth abnormality

Trait	How often it is seen
Birth length less than 3rd percentile	Always
Faltering weight	Always
Prenatal growth deficiency	Always
Proportionate short stature	Always
Short stature	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Low-set ears	Always
Small ears	Always
Abnormally shaped ears	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Scaling skin	Always
Spinal dimple	Always
Stiff skin	Always
Patchy lightened skin	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Poor suck	Always
Poor swallowing	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent ear infections	Always
Recurrent respiratory infections	Always
Skin rash	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Always
Muscular ventricular septal defect	Always

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always
Poorly developed lungs	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Not recorded

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 DONSON and how often each is seen. Find out more at hpo.jax.org.

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