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	Hvor ofte det ses
Abnormal chorioretinal morphology	Meget ofte (80–99 %)
Chorioretinal atrophy	Meget ofte (80–99 %)
Chorioretinal scalloped atrophy	Meget ofte (80–99 %)
Decreased clarity of vision	Ofte (30–79 %)
Loss of peripheral vision	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Progressive night blindness	Ofte (30–79 %)
Reticular pigmentary degeneration	Ofte (30–79 %)
Visual acuity test abnormality	Ofte (30–79 %)
Cross-eyed	Nogle gange (5–29 %)
Involuntary, rapid, rhythmic eye movements	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Dilatated internal auditory canal	Altid
Sensorineural hearing impairment	Meget ofte (80–99 %)
Abnormal cochlea morphology	Ofte (30–79 %)
Bilateral sensorineural hearing impairment	Ofte (30–79 %)
Conductive deafness	Ofte (30–79 %)
Congenital sensorineural hearing impairment	Ofte (30–79 %)
Mixed hearing impairment	Ofte (30–79 %)
Stapes ankylosis	Ofte (30–79 %)
Progressive sensorineural hearing impairment	Ikke registreret

Abnormality of the nervous system

Trait	Hvor ofte det ses
Ataxia	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Inability to coordinate movements when walking	Ofte (30–79 %)
Increased reflexes	Ofte (30–79 %)
Intellectual disability, mild	Ofte (30–79 %)
Difficulty performing quick and alternating movements	Nogle gange (5–29 %)
Epilepsy	Nogle gange (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Anterior hypopituitarism	Ofte (30–79 %)
Decreased response to growth hormone stimulation test	Ofte (30–79 %)
Low thyroid gland function due to abnormal pituitary gland	Ofte (30–79 %)
Adrenocorticotropic hormone deficiency	Ikke registreret
Anterior pituitary dysgenesis	Ikke registreret
Central diabetes insipidus	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Abnormal rhythmic movements of ankle	Ofte (30–79 %)
Abnormality of the Achilles tendon	Ofte (30–79 %)
Decreased arm strength	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Growth delay	Ofte (30–79 %)
Growth delay as children	Ofte (30–79 %)
Obesity	Ofte (30–79 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
High blood pressure	Nogle gange (5–29 %)
Narrowing of kidney artery	Nogle gange (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Delayed bone maturation	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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