Traits

Traits linked to ABCD3

ATP binding cassette subfamily D member 3

The Human Phenotype Ontology links 59 traits to ABCD3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Rimmed vacuoles	Very often (80–99%)
Abnormal morphology of musculature of pharynx	Often (30–79%)
Decreased lung function due to weak breathing muscles	Often (30–79%)
Distal lower limb amyotrophy	Often (30–79%)
Progressive distal muscle weakness	Often (30–79%)
Fatigable weakness of bulbar muscles	Sometimes (5–29%)
Progressive proximal muscle weakness	Sometimes (5–29%)
Increased endomysial connective tissue	Not recorded
Internally nucleated skeletal muscle fibers	Not recorded
Muscle fiber splitting	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormality of facial muscles	Very often (80–99%)
Weakness of facial musculature	Very often (80–99%)
High palate	Often (30–79%)
High, narrow palate	Often (30–79%)
Myopathic facies	Often (30–79%)
Tongue muscle weakness	Often (30–79%)
Abnormality of masseter muscle	Sometimes (5–29%)
Abnormality of orbicularis oris muscle	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Hepatic fibrosis	Always
Jaundice	Always
Liver failure	Always
Portal fibrosis	Always
Impaired oropharyngeal swallow response	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Poor swallowing	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Often (30–79%)
Distal upper limb amyotrophy	Often (30–79%)
Distal upper limb muscle weakness	Often (30–79%)
Proximal lower limb muscle weakness	Often (30–79%)
Foot drop	Sometimes (5–29%)
Proximal upper limb muscle weakness	Sometimes (5–29%)
Tibialis muscle weakness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Breathy speech	Very often (80–99%)
Difficulty articulating speech	Often (30–79%)
Weakness of the vocal cords	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Absent reflexes	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Leg paralysis	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Progressive drooping of upper eyelid	Very often (80–99%)
Progressive external ophthalmoplegia	Very often (80–99%)
Weakness of muscles controlling eye movement	Very often (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
High blood bilirubin levels	Always
High liver enzymes	Always
Increased serum bile acid concentration	Always
Increased total iron binding capacity	Always
Elevated blood creatine phosphokinase	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Iron deficiency anemia	Always
Prolonged partial thromboplastin time	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Portal hypertension	Always

Abnormality of the respiratory system

Trait	How often it is seen
Bowing of the vocal cords	Often (30–79%)
Stiff lung or chest wall causing decreased lung volume	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Progressive sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent aspiration pneumonia	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)

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 ABCD3 and how often each is seen. Find out more at hpo.jax.org.

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