Traits

Traits linked to NR2F1

nuclear receptor subfamily 2 group F member 1

The Human Phenotype Ontology links 51 traits to NR2F1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Decreased clarity of vision	Always
Cerebral visual impairment	Very often (80–99%)
Optic disc pallor	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic atrophy	Often (30–79%)
Inward turning cross eyed	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Optic disc hypoplasia	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Bulging cornea	Rarely (1–4%)
Close sighted	Rarely (1–4%)
Farsightedness	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Global developmental delay	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)
Repetitive compulsive behavior	Sometimes (5–29%)
Abnormal hippocampus morphology	Rarely (1–4%)
Delayed myelination	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Often (30–79%)
Eye folds	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short nasal bridge	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Prominent ear	Often (30–79%)
Abnormal helix morphology	Sometimes (5–29%)
Darwin tubercle of helix	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Prominent antihelix	Sometimes (5–29%)
Uplifted earlobe	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Delayed bone maturation	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Tapered finger	Often (30–79%)
Prominent fingertip pads	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Slow-growing hair	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Rarely (1–4%)

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 NR2F1 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