Traits

Traits linked to ABCC9

ATP binding cassette subfamily C member 9

The Human Phenotype Ontology links 120 traits to ABCC9, 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
Cardiac failure	Always
Cutis marmorata	Always
Impaired myocardial contractility	Always
Paroxysmal atrial fibrillation	Always
Stretched and thinned heart muscle	Always
Ventricular tachycardia	Always
Enlarged heart	Very often (80–99%)
Left ventricular systolic dysfunction	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Complete right bundle branch block	Often (30–79%)
Fainting spell	Often (30–79%)
Heart stops beating	Often (30–79%)
Palpitations	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Often (30–79%)
ST segment elevation	Often (30–79%)
Abnormal heart valve morphology	Sometimes (5–29%)
Elevated heart rate	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
First degree atrioventricular block	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Paroxysmal ventricular tachycardia	Sometimes (5–29%)
Sick sinus syndrome	Sometimes (5–29%)
Supraventricular tachycardia	Sometimes (5–29%)
Ventricular fibrillation	Sometimes (5–29%)
Trifascicular block	Rarely (1–4%)
Ventricular arrhythmia	Rarely (1–4%)
Aortic valve has two leaflets rather than three	Not recorded
Congenital hypertrophy of left ventricle	Not recorded
Fluid around heart	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Prominent brow	Always
Thin red part of the upper lip	Always
Coarse facial features	Very often (80–99%)
Curly eyelashes	Very often (80–99%)
Flat face	Very often (80–99%)
Full lips	Very often (80–99%)
Long eyelashes	Very often (80–99%)
Long philtrum	Very often (80–99%)
Low frontal hairline	Very often (80–99%)
Low hairline at back of neck	Very often (80–99%)
Thick eyebrow	Very often (80–99%)
Wide mouth	Very often (80–99%)
Bad bite	Often (30–79%)
Big calvaria	Often (30–79%)
Broad nasal tip	Often (30–79%)
Central incisor gap	Often (30–79%)
Eye folds	Often (30–79%)
Increased size of incisor	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Short neck	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Big sella turcica	Not recorded
Depressed nasal bridge	Not recorded
Enlarged posterior fossa	Not recorded
Full lower lip	Not recorded
Full upper lip	Not recorded
Gum enlargement	Not recorded
Prominent forehead	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Abnormal skeletal development	Often (30–79%)
Broad ribs	Often (30–79%)
Cuboid-shaped vertebral bodies	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Excessive inward curvature of lower spine	Often (30–79%)
Flattened vertebrae	Often (30–79%)
Narrow chest	Often (30–79%)
Osteoporosis	Often (30–79%)
Ovoid vertebral bodies	Often (30–79%)
Advanced bone age	Sometimes (5–29%)
EMG abnormality	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Hypoplastic ischiopubic ramus	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Very often (80–99%)
Coxa valga	Very often (80–99%)
Broad bone of big toe	Often (30–79%)
Deep wrinkles in soles of feet	Often (30–79%)
Short big toe	Often (30–79%)
Short outermost finger bone	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Dislocated hip since birth	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Limited elbow extension	Sometimes (5–29%)
Broad big toe	Not recorded
Broad wide portion of long bone	Not recorded
Erlenmeyer flask shaped thighbone	Not recorded
Wide 1st long bone of foot	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Always
Balance impairment	Always
Pauses in breathing while sleeping	Always
Intellectual disability, mild	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Periventricular white matter hyperintensities	Often (30–79%)
Triceps hyperreflexia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Often (30–79%)
Esodeviation	Sometimes (5–29%)
Heterotropia	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	Very often (80–99%)
Patchy hypopigmentation	Often (30–79%)
Birthmark	Sometimes (5–29%)
Congenital, generalized hypertrichosis	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Always
Chest pain	Often (30–79%)
Decreased ability to exercise	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)
Thromboembolism	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Baby eczema	Often (30–79%)
Food allergy	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Often (30–79%)
Swelling caused by excess lymph fluid under skin	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	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 ABCC9 and how often each is seen. Find out more at hpo.jax.org.

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