Traits

Traits linked to PRKG2

protein kinase cGMP-dependent 2

The Human Phenotype Ontology links 52 traits to PRKG2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Broad finger	Always
Broad toe	Always
Disproportionately short upper portion of limb	Always
Short finger	Always
Short finger bones	Always
Short long bone of foot	Always
Short toe	Always
Shortened long bone of hand	Always
Wide digital bones	Always
Bowed thighbone	Often (30–79%)
Bowing of outer large bone of the forearm	Often (30–79%)
Broad thumb	Often (30–79%)
Curving of inner forearm bone	Often (30–79%)
Disproportionately short middle portion of limb	Often (30–79%)
Dropped arches	Often (30–79%)
Flared wide portion of long bone	Often (30–79%)
Gap between 1st and 2nd toes	Often (30–79%)
Irregular wide portion of a long bone	Often (30–79%)
Knock knees	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Prominent deltoid tuberosities	Often (30–79%)
Shortened 4th long bone of hand	Often (30–79%)
Shortened 5th long bone of hand	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Flattened vertebrae	Always
Low muscle tone	Always
Advanced bone age	Often (30–79%)
Beaking of vertebral bodies	Often (30–79%)
Enlargement of the costochondral junction	Often (30–79%)
Excessive inward curvature of lower spine	Often (30–79%)
Prominent sternum	Often (30–79%)
Thin bony cortex	Often (30–79%)
Thoracic kyphosis	Often (30–79%)
Thoracic platyspondyly	Often (30–79%)
Thoracic scoliosis	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Always
Extra bones within cranial sutures	Always
Thick eyebrow	Always
Monobrow	Often (30–79%)
Pointed chin	Often (30–79%)
Triangular face	Often (30–79%)
Wide nasal bridge	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Always
Umbilical hernia	Always
Feeding difficulties	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Always
Excessive hairiness over body	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Disproportionate short stature	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Complete heart block	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	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 PRKG2 and how often each is seen. Find out more at hpo.jax.org.

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