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Traits
Traits linked to POU1F1
POU class 1 homeobox 1
The Human Phenotype Ontology links 94 traits to POU1F1, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the endocrine system
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Boxer's nasal deformity | Always |
| Abnormally large tongue | Often (30–79%) |
| Delayed cranial suture closure | Often (30–79%) |
| Facial puffiness | Often (30–79%) |
| Flat nose | Often (30–79%) |
| Large posterior fontanelle | Often (30–79%) |
| Abnormal facial shape | Sometimes (5–29%) |
| Depressed nasal bridge | Sometimes (5–29%) |
| Midface retrusion | Sometimes (5–29%) |
| Prominent forehead | Sometimes (5–29%) |
| Short neck | Sometimes (5–29%) |
| Central cleft palate | Rarely (1–4%) |
| Frontal bossing | Not recorded |
| Nasal tip, upturned | Not recorded |
| Short nose | Not recorded |
| Zygomatic flattening | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Decreased reflex response | Often (30–79%) |
| Lethargy | Often (30–79%) |
| Neurodevelopmental delay | Often (30–79%) |
| Abnormality of the cerebellum | Sometimes (5–29%) |
| Agenesis of corpus callosum | Sometimes (5–29%) |
| Absent septum pellucidum | Rarely (1–4%) |
| Epilepsy | Rarely (1–4%) |
| Holoprosencephaly | Rarely (1–4%) |
| Severe global developmental delay | Rarely (1–4%) |
| Intellectual disability | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Always |
| Constipation | Often (30–79%) |
| Feeding difficulties in infancy | Often (30–79%) |
| Prolonged yellowing of skin in newborn | Often (30–79%) |
| Umbilical hernia | Often (30–79%) |
| Jaundice | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormal shape of end part of bone | Often (30–79%) |
| Osteopenia | Often (30–79%) |
| Delayed bone maturation | Sometimes (5–29%) |
| Limited neck movement | Sometimes (5–29%) |
| Low muscle tone | Sometimes (5–29%) |
| Osteoporosis of vertebrae | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Always |
| Short stature | Always |
| Growth delay | Often (30–79%) |
| Overweight | Sometimes (5–29%) |
| Pituitary dwarfism | Sometimes (5–29%) |
| Severe growth delay in children | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Delayed proximal femoral epiphyseal ossification | Often (30–79%) |
| Extra finger | Sometimes (5–29%) |
| Short finger | Sometimes (5–29%) |
| Abnormality of fingers or toes | Rarely (1–4%) |
| More than five fingers or toes on hands or feet | Rarely (1–4%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Optic nerve hypoplasia | Sometimes (5–29%) |
| Abnormality of the eye | Rarely (1–4%) |
| Septo-optic dysplasia | Rarely (1–4%) |
| Deeply set eye | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormal absence of menstruation | Often (30–79%) |
| Decreased testicular size | Often (30–79%) |
| Infertility | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Hypothermia | Often (30–79%) |
| Low blood sugar | Often (30–79%) |
| Abnormal circulating thyroglobulin concentration | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Low blood pressure | Often (30–79%) |
| Slow heartbeats | Often (30–79%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Pretibial myxedema | Always |
| Abnormality of secondary sexual hair | Often (30–79%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Absent/small breasts | Often (30–79%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Sensorineural hearing impairment | Sometimes (5–29%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Hoarse voice | Always |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | 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 POU1F1 and how often each is seen. Find out more at hpo.jax.org.
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