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	Kui sageli seda täheldatakse
Abnormal chorioretinal morphology	Väga sageli (80–99%)
Chorioretinal atrophy	Väga sageli (80–99%)
Chorioretinal scalloped atrophy	Väga sageli (80–99%)
Decreased clarity of vision	Sageli (30–79%)
Loss of peripheral vision	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Progressive night blindness	Sageli (30–79%)
Reticular pigmentary degeneration	Sageli (30–79%)
Visual acuity test abnormality	Sageli (30–79%)
Cross-eyed	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Dilatated internal auditory canal	Alati
Sensorineural hearing impairment	Väga sageli (80–99%)
Abnormal cochlea morphology	Sageli (30–79%)
Bilateral sensorineural hearing impairment	Sageli (30–79%)
Conductive deafness	Sageli (30–79%)
Congenital sensorineural hearing impairment	Sageli (30–79%)
Mixed hearing impairment	Sageli (30–79%)
Stapes ankylosis	Sageli (30–79%)
Progressive sensorineural hearing impairment	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Ataxia	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Inability to coordinate movements when walking	Sageli (30–79%)
Increased reflexes	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Difficulty performing quick and alternating movements	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Anterior hypopituitarism	Sageli (30–79%)
Decreased response to growth hormone stimulation test	Sageli (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Sageli (30–79%)
Adrenocorticotropic hormone deficiency	Pole registreeritud
Anterior pituitary dysgenesis	Pole registreeritud
Central diabetes insipidus	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Abnormal rhythmic movements of ankle	Sageli (30–79%)
Abnormality of the Achilles tendon	Sageli (30–79%)
Decreased arm strength	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Growth delay	Sageli (30–79%)
Growth delay as children	Sageli (30–79%)
Obesity	Sageli (30–79%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
High blood pressure	Mõnikord (5–29%)
Narrowing of kidney artery	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Delayed bone maturation	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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