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

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

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

Trait	나타나는 빈도
Low muscle tone	자주 (30–79%)
Aplasia of the right hemidiaphragm	가끔 (5–29%)
Asymmetric chest	가끔 (5–29%)
Cone-shaped end part of bone	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Funnel chest	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Short collarbone	가끔 (5–29%)

Trait	나타나는 빈도
Alternating cross eyes	가끔 (5–29%)
Cross-eyed	가끔 (5–29%)
Drooping of both upper eyelids	가끔 (5–29%)
Drooping upper eyelid	가끔 (5–29%)
Lazy eye	가끔 (5–29%)
Septo-optic dysplasia	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Trait	나타나는 빈도
Undescended testes	자주 (30–79%)
Chordee	가끔 (5–29%)
Crossed fused renal ectopia	가끔 (5–29%)
Frequent urinary tract infections	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Short penis	가끔 (5–29%)

Trait	나타나는 빈도
Fetal pyelectasis	가끔 (5–29%)
High levels of amniotic fluid	가끔 (5–29%)
Less than 10 fetal movements in 12 hours	가끔 (5–29%)
Low levels of amniotic fluid	가끔 (5–29%)
Mild fetal ventriculomegaly	가끔 (5–29%)

Trait	나타나는 빈도
Low-set ears	가끔 (5–29%)
Recurrent middle ear infection	가끔 (5–29%)
Sensorineural hearing impairment	가끔 (5–29%)
Uplifted earlobe	가끔 (5–29%)

Trait	나타나는 빈도
Bloody nose	가끔 (5–29%)
Cephalohematoma	가끔 (5–29%)

Trait	나타나는 빈도
Patent ductus arteriosus	가끔 (5–29%)
Patent foramen ovale	가끔 (5–29%)

Trait	나타나는 빈도
Episodic vomiting	가끔 (5–29%)
Tube feeding	가끔 (5–29%)

Trait	나타나는 빈도
Prenatal growth deficiency	가끔 (5–29%)
Short stature	가끔 (5–29%)

Trait	나타나는 빈도
Underdeveloped pituitary gland	가끔 (5–29%)

Trait	나타나는 빈도
Asthma	가끔 (5–29%)

Trait	나타나는 빈도
Sparse hair	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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