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Traits
Traits linked to PCGF2
polycomb group ring finger 2
The Human Phenotype Ontology links 81 traits to PCGF2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Frontal bossing | Very often (80–99%) |
| Big calvaria | Often (30–79%) |
| Big lower jaw | Often (30–79%) |
| Decreased width of baby teeth | Often (30–79%) |
| Downward slanting of the opening between the eyelids | Often (30–79%) |
| Drooling | Often (30–79%) |
| Fullness around the eyes | Often (30–79%) |
| High palate | Often (30–79%) |
| Long face | Often (30–79%) |
| Narrow eyelid opening | Often (30–79%) |
| Narrow mouth | Often (30–79%) |
| Prominent nasal tip | Often (30–79%) |
| Thin red part of the upper lip | Often (30–79%) |
| Zygomatic flattening | Often (30–79%) |
| Downturned corners of mouth | Sometimes (5–29%) |
| Sparse scalp hair | Sometimes (5–29%) |
| Wider-than-typical soft spot of skull | Sometimes (5–29%) |
| Abnormal dentition | Not recorded |
| Abnormally small head | Not recorded |
| Asymmetry of the posterior head | Not recorded |
| Bad bite | Not recorded |
| Broad forehead | Not recorded |
| Broad head shape | Not recorded |
| Decreased facial muscle tone | Not recorded |
| Decreased size of tooth | Not recorded |
| Dental crowding | Not recorded |
| Relatively large head | Not recorded |
| Widely spaced teeth | Not recorded |
| Wry neck | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Double-Jointed | Often (30–79%) |
| Low muscle tone | Often (30–79%) |
| Funnel chest | Sometimes (5–29%) |
| Delayed bone maturation | Not recorded |
| Excessive inward curvature of lower spine | Not recorded |
| Long rib cage | Not recorded |
| Low muscle tone in trunk | Not recorded |
| Narrow chest | Not recorded |
| Pigeon chest | Not recorded |
| Short sternum | Not recorded |
| Thoracic kyphoscoliosis | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Specific learning disability | Always |
| Absent speech development | Sometimes (5–29%) |
| Attention deficit | Sometimes (5–29%) |
| Autism spectrum disorder | Not recorded |
| Cavum septum pellucidum | Not recorded |
| Cerebellar vermis hypoplasia | Not recorded |
| Difficulty articulating speech | Not recorded |
| Global developmental delay | Not recorded |
| Intellectual disability | Not recorded |
| Obstructive sleep apnea | Not recorded |
| Underdevelopment of part of brain called corpus callosum | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Tapered finger | Often (30–79%) |
| Curvature of digit | Not recorded |
| High-arched foot | Not recorded |
| Inward turned thumb | Not recorded |
| Long fingers | Not recorded |
| Overlapping toe | Not recorded |
| Prominent hinge joints | Not recorded |
| Small hand | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Carotid artery tortuosity | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Not recorded |
| Aortic regurgitation | Not recorded |
| Mitral valve prolapse | Not recorded |
| Patent ductus arteriosus | Not recorded |
| Tricuspid valve prolapse | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Acid reflux | Often (30–79%) |
| Feeding difficulties in infancy | Often (30–79%) |
| Constipation | Sometimes (5–29%) |
| Chronic constipation | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Satyr ear | Very often (80–99%) |
| Conductive deafness | Often (30–79%) |
| Low-set ears | Often (30–79%) |
| Small ears | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Mild short stature | Often (30–79%) |
| Prenatal growth deficiency | Sometimes (5–29%) |
| Decreased body weight | Not recorded |
| Faltering weight | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Beauty mark | Often (30–79%) |
| Numerous moles | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent respiratory infections | 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 PCGF2 and how often each is seen. Find out more at hpo.jax.org.
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