Trăsături

Trăsături asociate cu CDC42BPB

CDC42 binding protein kinase beta

Human Phenotype Ontology asociază 102 trăsături cu CDC42BPB, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

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

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Autism spectrum disorder	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Agenesis of corpus callosum	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Cerebellar vermis hypoplasia	Uneori (5–29%)
Communicating hydrocephalus	Uneori (5–29%)
Incoordination	Uneori (5–29%)
Limb tremor	Uneori (5–29%)
Obstructive sleep apnea	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad finger	Uneori (5–29%)
Broad foot	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Increased muscle tone of arm or leg	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Short 4th long bone of foot	Uneori (5–29%)
Short 5th long bone of foot	Uneori (5–29%)
Short finger	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Slender finger	Uneori (5–29%)
Tapered finger	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Aplasia of the right hemidiaphragm	Uneori (5–29%)
Asymmetric chest	Uneori (5–29%)
Cone-shaped end part of bone	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Short collarbone	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Alternating cross eyes	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping of both upper eyelids	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Septo-optic dysplasia	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Des (30–79%)
Chordee	Uneori (5–29%)
Crossed fused renal ectopia	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Short penis	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Fetal pyelectasis	Uneori (5–29%)
High levels of amniotic fluid	Uneori (5–29%)
Less than 10 fetal movements in 12 hours	Uneori (5–29%)
Low levels of amniotic fluid	Uneori (5–29%)
Mild fetal ventriculomegaly	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)
Recurrent middle ear infection	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Uplifted earlobe	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bloody nose	Uneori (5–29%)
Cephalohematoma	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Patent ductus arteriosus	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Episodic vomiting	Uneori (5–29%)
Tube feeding	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underdeveloped pituitary gland	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Asthma	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Sparse hair	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CDC42BPB și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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