Traits

Traits linked to ABCD4

ATP binding cassette subfamily D member 4

The Human Phenotype Ontology links 35 traits to ABCD4, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated blood homocystine	Always
Elevated circulating propionylcarnitine concentration	Always
High urine homocystine levels	Always
Methylmalonic acidemia	Always
Methylmalonic aciduria	Always
Decreased plasma methionine	Often (30–79%)
Decreased circulating methylcobalamin concentration	Sometimes (5–29%)
Decreased methionine synthase activity	Sometimes (5–29%)
Decreased circulating adenosylcobalamin concentration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Narrowing of aorta	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Bell-shaped thorax	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Horizontal ribs	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Degeneration of cerebrum	Often (30–79%)
Lethargy	Often (30–79%)
Abnormal posturing	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Always
Normochromic anemia	Always
Low platelet count	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Inguinal hernia	Always
Acid reflux	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Increased respiratory rate or depth of breathing	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 ABCD4 and how often each is seen. Find out more at hpo.jax.org.

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