Traits

Traits linked to FOXL2

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The Human Phenotype Ontology links 46 traits to FOXL2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Corners of eye widely separated	Always
Epicanthus inversus	Always
Narrow eyelid opening	Always
Narrow opening between the eyelids	Always
Abnormal lacrimal duct morphology	Often (30–79%)
Absent tear gland	Often (30–79%)
Short philtrum	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Ectopic lacrimal punctum	Sometimes (5–29%)
Everted eyelid	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Punctal stenosis	Sometimes (5–29%)
S-shaped eyes	Sometimes (5–29%)
Supernumerary lacrimal punctum	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Underdeveloped tear gland	Sometimes (5–29%)
Depressed nasal bridge	Not recorded
High palate	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Often (30–79%)
Decreased fertility	Sometimes (5–29%)
Early menopause	Sometimes (5–29%)
Female infertility	Sometimes (5–29%)
Light or infrequent menstrual periods	Sometimes (5–29%)
Polycystic ovaries	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)
Small uterus	Sometimes (5–29%)
Streak ovary	Sometimes (5–29%)
Menstrual irregularity	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Abnormality of refraction	Often (30–79%)
Decreased tear secretion	Often (30–79%)
Lazy eye	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Rarely (1–4%)
Abnormally small eyeball	Not recorded
Cornea of eye less than 10mm in diameter	Not recorded
Farsightedness	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum estradiol	Sometimes (5–29%)
Decreased serum progesterone	Sometimes (5–29%)
Elevated circulating follicle stimulating hormone level	Sometimes (5–29%)
Elevated circulating luteinizing hormone level	Sometimes (5–29%)
Hypergonadotropic hypogonadism	Sometimes (5–29%)
Increased circulating gonadotropin level	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Cupped ear	Not recorded

Abnormality of the integument

Trait	How often it is seen
Sparse pubic hair	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 FOXL2 and how often each is seen. Find out more at hpo.jax.org.

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