Traits

Traits linked to PAK2

p21 (RAC1) activated kinase 2

The Human Phenotype Ontology links 40 traits to PAK2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Retinal detachment	Always
Severe near sightedness	Always
Vitreoretinopathy	Always
Close sighted	Very often (80–99%)
Macular degeneration	Very often (80–99%)
Abnormal vitreous humor morphology	Often (30–79%)
Anterior cortical cataract	Often (30–79%)
Eye floaters	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Visual loss	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Ectopia lentis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Always
Thin dental enamel	Always
Brain tissue sticks out through back of skull	Very often (80–99%)
Cranial defect	Very often (80–99%)
Encephalocele	Often (30–79%)
Depressed nasal bridge	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Autism	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Often (30–79%)
Heart tip and four chambers point towards right side of body	Sometimes (5–29%)
Lymphangioma	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Often (30–79%)
Pyloric stenosis	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bifid ureter	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality in area between air sacs in lung	Always
Bronchial wall thickening	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Only one artery in umbilical cord instead of two	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of the hair	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Sometimes (5–29%)

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 PAK2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test