Traits

Traits linked to IPO8

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The Human Phenotype Ontology links 135 traits to IPO8, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic tortuosity	Always
Arterial tortuosity	Always
Bulging of wall of large artery located above heart	Always
Aneurysm	Very often (80–99%)
Arterial dissection	Very often (80–99%)
Bulge in wall of large artery that carries blood away from heart	Very often (80–99%)
Bulge in wall of root of large artery that carries blood away from heart	Very often (80–99%)
Patent ductus arteriosus	Very often (80–99%)
Tear in inner wall of large artery that carries blood away from heart	Very often (80–99%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Carotid artery tortuosity	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Abnormal branching pattern of the aortic arch	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)
Carotid artery dilatation	Sometimes (5–29%)
Coronary sinus enlargement	Sometimes (5–29%)
Double outlet right ventricle	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Iliac artery aneurysm	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Left aortic arch with retroesophageal right subclavian artery	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Prominent superficial blood vessels	Sometimes (5–29%)
Pulmonary artery aneurysm	Sometimes (5–29%)
Right ventricular dilatation	Sometimes (5–29%)
Right ventricular hypertrophy	Sometimes (5–29%)
Twisted cerebral arteries	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Receding chin	Very often (80–99%)
Bifid uvula	Often (30–79%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Deformity of the skull	Often (30–79%)
Frontal bossing	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long, narrow head	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Abnormally large tongue	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Broad opening between the eyelids	Sometimes (5–29%)
Broad uvula	Sometimes (5–29%)
Cleft soft palate	Sometimes (5–29%)
Cleft tongue	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Everted eyelid	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Small retruded chin	Sometimes (5–29%)
Sparse scalp hair	Sometimes (5–29%)
Submucous cleft soft palate	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)
Abdominal bloating	Sometimes (5–29%)
Abnormal stomach location	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Celiac disease	Sometimes (5–29%)
Chronic constipation	Sometimes (5–29%)
Chronic diarrhea	Sometimes (5–29%)
Chronic gastritis	Sometimes (5–29%)
Duodenitis	Sometimes (5–29%)
Eosinophilic infiltration of the esophagus	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Double-Jointed	Often (30–79%)
Funnel chest	Often (30–79%)
Recurrent joint dislocation	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Butterfly vertebrae	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Hypermobility of all joints	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Very often (80–99%)
Club feet	Often (30–79%)
Long slender fingers	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Contracture of the proximal interphalangeal joint of the 2nd toe	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Long toe	Sometimes (5–29%)
Rocker bottom foot	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Often (30–79%)
Bulging eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Severe near sightedness	Often (30–79%)
Wide-set eyes	Often (30–79%)
Close sighted	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Atypical scarring of skin	Often (30–79%)
Hyperelastic skin	Often (30–79%)
Stretch marks	Often (30–79%)
Excessive hairiness	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Hanging skin	Sometimes (5–29%)
Thin skin	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Exostosis of the external auditory canal	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Severely increased total eosinophil count	Very often (80–99%)
Bleeding tendency	Sometimes (5–29%)
Bruising susceptibility	Sometimes (5–29%)
Epidural hemorrhage	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Often (30–79%)
Eczema	Often (30–79%)
Baby eczema	Sometimes (5–29%)
Drug allergy	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Always
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Loss of developmental milestones	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Sometimes (5–29%)
Collapsed lung	Sometimes (5–29%)
Emphysema	Sometimes (5–29%)
Spontaneous collapsed lung	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgE concentration	Always
Increased circulating IgG concentration	Always
Decreased circulating IgA concentration	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Tall stature	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Sometimes (5–29%)
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Uterine rupture	Very often (80–99%)
Hydronephrosis	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	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 IPO8 and how often each is seen. Find out more at hpo.jax.org.

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