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

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Autism spectrum disorder	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Intellectual disability	Ofte (30–79 %)
Agenesis of corpus callosum	Noen ganger (5–29 %)
Aggressive behavior	Noen ganger (5–29 %)
Anxiety	Noen ganger (5–29 %)
Attention deficit	Noen ganger (5–29 %)
Cerebellar vermis hypoplasia	Noen ganger (5–29 %)
Communicating hydrocephalus	Noen ganger (5–29 %)
Incoordination	Noen ganger (5–29 %)
Limb tremor	Noen ganger (5–29 %)
Obstructive sleep apnea	Noen ganger (5–29 %)
Self-injurious behavior	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Broad finger	Noen ganger (5–29 %)
Broad foot	Noen ganger (5–29 %)
Dropped arches	Noen ganger (5–29 %)
Increased muscle tone of arm or leg	Noen ganger (5–29 %)
Pes valgus	Noen ganger (5–29 %)
Short 4th long bone of foot	Noen ganger (5–29 %)
Short 5th long bone of foot	Noen ganger (5–29 %)
Short finger	Noen ganger (5–29 %)
Single transverse palmar crease	Noen ganger (5–29 %)
Slender finger	Noen ganger (5–29 %)
Tapered finger	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Ofte (30–79 %)
Aplasia of the right hemidiaphragm	Noen ganger (5–29 %)
Asymmetric chest	Noen ganger (5–29 %)
Cone-shaped end part of bone	Noen ganger (5–29 %)
Double-Jointed	Noen ganger (5–29 %)
Funnel chest	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Short collarbone	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Alternating cross eyes	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Drooping of both upper eyelids	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Lazy eye	Noen ganger (5–29 %)
Septo-optic dysplasia	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Undescended testes	Ofte (30–79 %)
Chordee	Noen ganger (5–29 %)
Crossed fused renal ectopia	Noen ganger (5–29 %)
Frequent urinary tract infections	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Short penis	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Fetal pyelectasis	Noen ganger (5–29 %)
High levels of amniotic fluid	Noen ganger (5–29 %)
Less than 10 fetal movements in 12 hours	Noen ganger (5–29 %)
Low levels of amniotic fluid	Noen ganger (5–29 %)
Mild fetal ventriculomegaly	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Low-set ears	Noen ganger (5–29 %)
Recurrent middle ear infection	Noen ganger (5–29 %)
Sensorineural hearing impairment	Noen ganger (5–29 %)
Uplifted earlobe	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Bloody nose	Noen ganger (5–29 %)
Cephalohematoma	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Patent ductus arteriosus	Noen ganger (5–29 %)
Patent foramen ovale	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Episodic vomiting	Noen ganger (5–29 %)
Tube feeding	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Prenatal growth deficiency	Noen ganger (5–29 %)
Short stature	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Underdeveloped pituitary gland	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Asthma	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Sparse hair	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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