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

Abnormality of the nervous system

Trait	Hoe vaak het voorkomt
Autism spectrum disorder	Vaak (30–79%)
Global developmental delay	Vaak (30–79%)
Intellectual disability	Vaak (30–79%)
Agenesis of corpus callosum	Soms (5–29%)
Aggressive behavior	Soms (5–29%)
Anxiety	Soms (5–29%)
Attention deficit	Soms (5–29%)
Cerebellar vermis hypoplasia	Soms (5–29%)
Communicating hydrocephalus	Soms (5–29%)
Incoordination	Soms (5–29%)
Limb tremor	Soms (5–29%)
Obstructive sleep apnea	Soms (5–29%)
Self-injurious behavior	Soms (5–29%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Broad finger	Soms (5–29%)
Broad foot	Soms (5–29%)
Dropped arches	Soms (5–29%)
Increased muscle tone of arm or leg	Soms (5–29%)
Pes valgus	Soms (5–29%)
Short 4th long bone of foot	Soms (5–29%)
Short 5th long bone of foot	Soms (5–29%)
Short finger	Soms (5–29%)
Single transverse palmar crease	Soms (5–29%)
Slender finger	Soms (5–29%)
Tapered finger	Soms (5–29%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Low muscle tone	Vaak (30–79%)
Aplasia of the right hemidiaphragm	Soms (5–29%)
Asymmetric chest	Soms (5–29%)
Cone-shaped end part of bone	Soms (5–29%)
Double-Jointed	Soms (5–29%)
Funnel chest	Soms (5–29%)
Scoliosis	Soms (5–29%)
Short collarbone	Soms (5–29%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Alternating cross eyes	Soms (5–29%)
Cross-eyed	Soms (5–29%)
Drooping of both upper eyelids	Soms (5–29%)
Drooping upper eyelid	Soms (5–29%)
Lazy eye	Soms (5–29%)
Septo-optic dysplasia	Soms (5–29%)
Wide-set eyes	Soms (5–29%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Undescended testes	Vaak (30–79%)
Chordee	Soms (5–29%)
Crossed fused renal ectopia	Soms (5–29%)
Frequent urinary tract infections	Soms (5–29%)
Hypospadias	Soms (5–29%)
Short penis	Soms (5–29%)

Abnormality of prenatal development or birth

Trait	Hoe vaak het voorkomt
Fetal pyelectasis	Soms (5–29%)
High levels of amniotic fluid	Soms (5–29%)
Less than 10 fetal movements in 12 hours	Soms (5–29%)
Low levels of amniotic fluid	Soms (5–29%)
Mild fetal ventriculomegaly	Soms (5–29%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Low-set ears	Soms (5–29%)
Recurrent middle ear infection	Soms (5–29%)
Sensorineural hearing impairment	Soms (5–29%)
Uplifted earlobe	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Hoe vaak het voorkomt
Bloody nose	Soms (5–29%)
Cephalohematoma	Soms (5–29%)

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Patent ductus arteriosus	Soms (5–29%)
Patent foramen ovale	Soms (5–29%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Episodic vomiting	Soms (5–29%)
Tube feeding	Soms (5–29%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Prenatal growth deficiency	Soms (5–29%)
Short stature	Soms (5–29%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Underdeveloped pituitary gland	Soms (5–29%)

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Asthma	Soms (5–29%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Sparse hair	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

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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