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Traits
Traits linked to ATR
ATR checkpoint kinase
The Human Phenotype Ontology links 79 traits to ATR, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Very often (80–99%) |
| Beaked nose | Very often (80–99%) |
| Deformity of the skull | Very often (80–99%) |
| Limited hair on end of eyebrow | Very often (80–99%) |
| Little lower jaw | Very often (80–99%) |
| Narrow face | Very often (80–99%) |
| Abnormal tooth enamel | Often (30–79%) |
| Decreased number of teeth | Often (30–79%) |
| Dental cavities | Often (30–79%) |
| Downward slanting of the opening between the eyelids | Often (30–79%) |
| Sparse scalp hair | Often (30–79%) |
| Cone shaped front tooth | Sometimes (5–29%) |
| Thin dental enamel | Sometimes (5–29%) |
| Absence of a tooth | Not recorded |
| Bad bite | Not recorded |
| Cleft palate | Not recorded |
| Dental crowding | Not recorded |
| Facial asymmetry | Not recorded |
| High palate | Not recorded |
| Narrow opening between the eyelids | Not recorded |
| Prominent nose | Not recorded |
| Sloping forehead | Not recorded |
| Small anterior fontanelle | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Curvature of little finger | Very often (80–99%) |
| Gap between 1st and 2nd toes | Very often (80–99%) |
| Abnormal finger flexion crease | Not recorded |
| Cone-shaped end part of finger bones | Not recorded |
| Dislocated radial head | Not recorded |
| Dropped arches | Not recorded |
| Elbow flexion contracture | Not recorded |
| Hip dislocation | Not recorded |
| Hypoplasia of proximal radius | Not recorded |
| Single transverse palmar crease | Not recorded |
| Small innermost upper end of calf bone | Not recorded |
| Talipes | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Prematurely aged appearance | Very often (80–99%) |
| Grooved nails | Often (30–79%) |
| Oropharyngeal squamous cell carcinoma | Often (30–79%) |
| Actinic keratosis | Sometimes (5–29%) |
| Detachment of nail | Sometimes (5–29%) |
| Poor nail formation | Sometimes (5–29%) |
| Yellow nails | Sometimes (5–29%) |
| Hair loss | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Cognitive impairment | Very often (80–99%) |
| Intellectual disability | Very often (80–99%) |
| Mild global developmental delay | Very often (80–99%) |
| Cerebellar vermis hypoplasia | Not recorded |
| Epilepsy | Not recorded |
| Fewer and broader ridges in brain | Not recorded |
| Large basal ganglia | Not recorded |
| More active than typical | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Delayed bone maturation | Very often (80–99%) |
| Abnormal formation of the hip | Often (30–79%) |
| Cone-shaped end part of bone | Often (30–79%) |
| Double-Jointed | Often (30–79%) |
| Scoliosis | Sometimes (5–29%) |
| 11 pairs of ribs | Not recorded |
| Increased bone density in end part of bone | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Prenatal growth deficiency | Very often (80–99%) |
| Short stature | Very often (80–99%) |
| Wasting syndrome | Very often (80–99%) |
| Growth delay as children | Not recorded |
| Proportionate short stature | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormal earlobe | Often (30–79%) |
| Absent earlobe | Often (30–79%) |
| Abnormally shaped ears | Not recorded |
| Low-set ears | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Facial telangiectasia | Always |
| Spider veins | Always |
| Livedo | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Glaucoma | Often (30–79%) |
| Cross-eyed | Not recorded |
| Increased size of eyes | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Enlarged clitoris | Not recorded |
| Hypospadias | Not recorded |
| Undescended testes | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Low blood cell count | Not recorded |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Breast cancer | Rarely (1–4%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Unusual fungal nail infection | Sometimes (5–29%) |
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 ATR and how often each is seen. Find out more at hpo.jax.org.
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