Traits

Traits linked to FAR1

fatty acyl-CoA reductase 1

The Human Phenotype Ontology links 44 traits to FAR1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Epilepsy	Always
Global developmental delay	Always
IQ less than 20	Always
Loss of developmental milestones	Always
Delayed speech and language development	Very often (80–99%)
Cerebellar vermis atrophy	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Grand mal seizures	Often (30–79%)
Intellectual disability	Often (30–79%)
Brief seizures with staring spells	Sometimes (5–29%)
Complex febrile seizure	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Focal motor seizure	Sometimes (5–29%)
Impaired executive functioning	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Abnormal facial shape	Often (30–79%)
Coarse facial features	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Long philtrum	Often (30–79%)
Progressively abnormally small cranium	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Big calvaria	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Spastic paraparesis	Always
Spastic tetraparesis	Always
Low muscle tone	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Difficulty in standing	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Drooping upper eyelid	Often (30–79%)
Juvenile cataract	Often (30–79%)
Wide-set eyes	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Short stature	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Large ears	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 FAR1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test