Traits

Traits linked to CDC42BPB

CDC42 binding protein kinase beta

The Human Phenotype Ontology links 102 traits to CDC42BPB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Absence of front tooth	Sometimes (5–29%)
Asymmetry of the posterior head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Cystic hygroma	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Epicanthus inversus	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Hooded eyelid	Sometimes (5–29%)
Limited hair on end of eyebrow	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow eyelid opening	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Posterior plagiocephaly	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Sparse scalp hair	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Tongue tied	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Communicating hydrocephalus	Sometimes (5–29%)
Incoordination	Sometimes (5–29%)
Limb tremor	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad finger	Sometimes (5–29%)
Broad foot	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Increased muscle tone of arm or leg	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Short 4th long bone of foot	Sometimes (5–29%)
Short 5th long bone of foot	Sometimes (5–29%)
Short finger	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Slender finger	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Aplasia of the right hemidiaphragm	Sometimes (5–29%)
Asymmetric chest	Sometimes (5–29%)
Cone-shaped end part of bone	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Short collarbone	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Alternating cross eyes	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping of both upper eyelids	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Septo-optic dysplasia	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Chordee	Sometimes (5–29%)
Crossed fused renal ectopia	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Short penis	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal pyelectasis	Sometimes (5–29%)
High levels of amniotic fluid	Sometimes (5–29%)
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)
Mild fetal ventriculomegaly	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)
Recurrent middle ear infection	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Uplifted earlobe	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bloody nose	Sometimes (5–29%)
Cephalohematoma	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Episodic vomiting	Sometimes (5–29%)
Tube feeding	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Underdeveloped pituitary gland	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	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 CDC42BPB and how often each is seen. Find out more at hpo.jax.org.

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