Traits

Traits linked to POU3F4

POU class 3 homeobox 4

The Human Phenotype Ontology links 42 traits to POU3F4, 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
Abnormal chorioretinal morphology	Very often (80–99%)
Chorioretinal atrophy	Very often (80–99%)
Chorioretinal scalloped atrophy	Very often (80–99%)
Decreased clarity of vision	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Optic atrophy	Often (30–79%)
Progressive night blindness	Often (30–79%)
Reticular pigmentary degeneration	Often (30–79%)
Visual acuity test abnormality	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dilatated internal auditory canal	Always
Sensorineural hearing impairment	Very often (80–99%)
Abnormal cochlea morphology	Often (30–79%)
Bilateral sensorineural hearing impairment	Often (30–79%)
Conductive deafness	Often (30–79%)
Congenital sensorineural hearing impairment	Often (30–79%)
Mixed hearing impairment	Often (30–79%)
Stapes ankylosis	Often (30–79%)
Progressive sensorineural hearing impairment	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Often (30–79%)
Global developmental delay	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Increased reflexes	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Difficulty performing quick and alternating movements	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Anterior hypopituitarism	Often (30–79%)
Decreased response to growth hormone stimulation test	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Adrenocorticotropic hormone deficiency	Not recorded
Anterior pituitary dysgenesis	Not recorded
Central diabetes insipidus	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Often (30–79%)
Abnormality of the Achilles tendon	Often (30–79%)
Decreased arm strength	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Growth delay as children	Often (30–79%)
Obesity	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)
Narrowing of kidney artery	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	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 POU3F4 and how often each is seen. Find out more at hpo.jax.org.

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