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

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Autism spectrum disorder	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Agenesis of corpus callosum	Kartais (5–29%)
Aggressive behavior	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Attention deficit	Kartais (5–29%)
Cerebellar vermis hypoplasia	Kartais (5–29%)
Communicating hydrocephalus	Kartais (5–29%)
Incoordination	Kartais (5–29%)
Limb tremor	Kartais (5–29%)
Obstructive sleep apnea	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Broad finger	Kartais (5–29%)
Broad foot	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Increased muscle tone of arm or leg	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Short 4th long bone of foot	Kartais (5–29%)
Short 5th long bone of foot	Kartais (5–29%)
Short finger	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Slender finger	Kartais (5–29%)
Tapered finger	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Low muscle tone	Dažnai (30–79%)
Aplasia of the right hemidiaphragm	Kartais (5–29%)
Asymmetric chest	Kartais (5–29%)
Cone-shaped end part of bone	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Short collarbone	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Alternating cross eyes	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Drooping of both upper eyelids	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Septo-optic dysplasia	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Undescended testes	Dažnai (30–79%)
Chordee	Kartais (5–29%)
Crossed fused renal ectopia	Kartais (5–29%)
Frequent urinary tract infections	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Short penis	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Fetal pyelectasis	Kartais (5–29%)
High levels of amniotic fluid	Kartais (5–29%)
Less than 10 fetal movements in 12 hours	Kartais (5–29%)
Low levels of amniotic fluid	Kartais (5–29%)
Mild fetal ventriculomegaly	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)
Recurrent middle ear infection	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Uplifted earlobe	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bloody nose	Kartais (5–29%)
Cephalohematoma	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Patent ductus arteriosus	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Episodic vomiting	Kartais (5–29%)
Tube feeding	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Prenatal growth deficiency	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Underdeveloped pituitary gland	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Asthma	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Sparse hair	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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