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Traits
Traits linked to PRR12
proline rich 12
The Human Phenotype Ontology links 73 traits to PRR12, 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 |
|---|---|
| Abnormally small head | Often (30–79%) |
| Blocked tear duct | Often (30–79%) |
| Broad opening between the eyelids | Often (30–79%) |
| Deep bite | Often (30–79%) |
| Distichiasis | Often (30–79%) |
| Downturned corners of mouth | Often (30–79%) |
| Downward slanting of the opening between the eyelids | Often (30–79%) |
| Eyelids stay open | Often (30–79%) |
| Highly arched eyebrow | Often (30–79%) |
| Hooded upper eyelid | Often (30–79%) |
| Long eyelashes | Often (30–79%) |
| Midface retrusion | Often (30–79%) |
| Monobrow | Often (30–79%) |
| Prominent brow | Often (30–79%) |
| Receding chin | Often (30–79%) |
| Short uvula | Often (30–79%) |
| Submucous cleft hard palate | Often (30–79%) |
| Thick eyebrow | Often (30–79%) |
| Tongue tied | Often (30–79%) |
| Torus palatinus | Often (30–79%) |
| Widely spaced teeth | Often (30–79%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Outward facing eye ball | Always |
| Stellate iris | Always |
| Abnormally small eyeball | Often (30–79%) |
| Blue eyes | Often (30–79%) |
| Cat eye | Often (30–79%) |
| Close sighted | Often (30–79%) |
| Deeply set eye | Often (30–79%) |
| Drooping upper eyelid | Often (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Often (30–79%) |
| Lazy eye | Often (30–79%) |
| Lens coloboma | Often (30–79%) |
| Peters anomaly | Often (30–79%) |
| Speckled iris | Often (30–79%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cornea of eye less than 10mm in diameter | Sometimes (5–29%) |
| Farsightedness | Sometimes (5–29%) |
| Glaucoma | Sometimes (5–29%) |
| Hypoplasia of the fovea | Sometimes (5–29%) |
| Remnants of the hyaloid vascular system | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed speech and language development | Always |
| Intellectual disability | Always |
| Motor delay | Always |
| Anxiety | Often (30–79%) |
| Attention deficit | Often (30–79%) |
| Autism spectrum disorder | Often (30–79%) |
| Brisk reflexes | Often (30–79%) |
| Difficulty falling asleep | Often (30–79%) |
| Excessive daytime sleepiness | Often (30–79%) |
| Global developmental delay | Often (30–79%) |
| Obstructive sleep apnea | Often (30–79%) |
| Periventricular leukomalacia | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Back knee | Often (30–79%) |
| Curvature of little finger | Often (30–79%) |
| Deep palm line | Often (30–79%) |
| Dropped arches | Often (30–79%) |
| Finger joint hyperextensibility | Often (30–79%) |
| Prominent fingertip pads | Often (30–79%) |
| Tapered finger | Often (30–79%) |
| Tibial torsion | Often (30–79%) |
| Winged shoulder blade | Often (30–79%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Cupped ear | Often (30–79%) |
| Deafness in one ear | Often (30–79%) |
| Earlobe crease | Often (30–79%) |
| Low-set ears | Often (30–79%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Small nail | Often (30–79%) |
| Spinal dimple | Often (30–79%) |
| Brittle hair | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Funnel chest | Often (30–79%) |
| Low muscle tone in trunk | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Patent foramen ovale | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Umbilical hernia | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | 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 PRR12 and how often each is seen. Find out more at hpo.jax.org.
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