Traits

Traits linked to FDFT1

farnesyl-diphosphate farnesyltransferase 1

The Human Phenotype Ontology links 36 traits to FDFT1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Decreased circulating cholesterol level	Always
Decreased circulating LDL-C concentration	Always
Elevated urinary mevalonate lactone level	Always
Elevated urine 3-methyladipic acid level	Always
Elevated urine mesaconic acid level	Always
Increased circulating farnesol concentration	Always
Elevated circulating methylsuccinic acid concentration	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Irritability	Always
Profound global developmental delay	Always
More grooves in brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Elevated methylhex-dienedioic level by MRS	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
Little lower jaw	Often (30–79%)
Receding chin	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Elbow flexion contracture	Often (30–79%)
Inability to straighten knee	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Large ears	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Dry skin	Always
Photosensitive skin	Always
Abnormality of hair pigmentation	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Always
Gastrostomy tube feeding in infancy	Always

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Optic nerve hypoplasia	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Often (30–79%)
Hypospadias	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Always
Prenatal growth deficiency	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic valve has two leaflets rather than three	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Slender long bone	Often (30–79%)

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 FDFT1 and how often each is seen. Find out more at hpo.jax.org.

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