Trăsături

Trăsături asociate cu KIF7

kinesin family member 7

Human Phenotype Ontology asociază 168 trăsături cu KIF7, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

KIF7

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Întotdeauna
Depressed nasal bridge	Întotdeauna
Frontal bossing	Întotdeauna
Short neck	Întotdeauna
Wide nasal bridge	Întotdeauna
Zygomatic flattening	Întotdeauna
Little lower jaw	Foarte des (80–99%)
Receding chin	Foarte des (80–99%)
Triangular mouth	Foarte des (80–99%)
Abnormal oral frenulum morphology	Des (30–79%)
Abnormality of the sense of smell	Des (30–79%)
Bifid uvula	Des (30–79%)
Broad forehead	Des (30–79%)
Broad nasal tip	Des (30–79%)
Bumpy tongue	Des (30–79%)
Cleft palate	Des (30–79%)
Dandy-Walker malformation	Des (30–79%)
Decreased width of the skull	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Eye folds	Des (30–79%)
Gingival cleft	Des (30–79%)
Hamartoma of tongue	Des (30–79%)
High palate	Des (30–79%)
Long face	Des (30–79%)
One sided cleft upper lip	Des (30–79%)
Prominent back of the head	Des (30–79%)
Short nose	Des (30–79%)
Short philtrum	Des (30–79%)
Skin tag in front of the ear	Des (30–79%)
Sloping forehead	Des (30–79%)
Submucous cleft hard palate	Des (30–79%)
Tongue nodules	Des (30–79%)
Wider-than-typical soft spot of skull	Des (30–79%)
Cleft upper lip	Uneori (5–29%)
Decreased volume of lip	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Drooping upper lip	Uneori (5–29%)
Exaggerated cupid's bow	Uneori (5–29%)
Full lips	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Midline notch of upper alveolar ridge	Uneori (5–29%)
Open mouth	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Small retruded chin	Uneori (5–29%)
Alveolar process hypoplasia	Rar (1–4%)
Big lower jaw	Rar (1–4%)
Decreased size of teeth	Rar (1–4%)
Delayed loss of baby teeth	Rar (1–4%)
Excessive salivation	Rar (1–4%)
Gum enlargement	Rar (1–4%)
Narrow mouth	Rar (1–4%)
Prominent palatine ridges	Rar (1–4%)
Protruding tongue	Rar (1–4%)
Smooth philtrum	Rar (1–4%)
Wide mouth	Rar (1–4%)
Abnormal facial shape	Neînregistrat
Prominent forehead	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of digit	Întotdeauna
Knock knees	Întotdeauna
Tapered finger	Întotdeauna
Duplication of big toe bone	Foarte des (80–99%)
Duplication of thumb phalanx	Foarte des (80–99%)
Extra little finger	Foarte des (80–99%)
Extra thumb	Foarte des (80–99%)
Extra toe attached near the little toe	Foarte des (80–99%)
Preaxial foot polydactyly	Foarte des (80–99%)
Spindle-shaped finger	Foarte des (80–99%)
Curvature of finger	Des (30–79%)
Finger syndactyly	Des (30–79%)
Finger-like thumb	Des (30–79%)
Fused toes	Des (30–79%)
Preaxial polydactyly	Des (30–79%)
Short fingers or toes	Des (30–79%)
Webbed fingers or toes	Des (30–79%)
Cutaneous syndactyly	Uneori (5–29%)
Duplication of bones of the toes	Uneori (5–29%)
Extra finger	Uneori (5–29%)
Mesoaxial polydactyly	Uneori (5–29%)
Smaller or shorter than typical limbs	Uneori (5–29%)
Y-shaped central long bones of hand	Uneori (5–29%)
Curvature of little finger	Neînregistrat
Notched outermost bone of the thumb	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Aplasia/Hypoplasia of the corpus callosum	Întotdeauna
Molar tooth sign on MRI	Întotdeauna
Absent septum pellucidum	Foarte des (80–99%)
Agenesis of corpus callosum	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
Too much cerebrospinal fluid in the brain	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Anencephaly	Des (30–79%)
Ataxia	Des (30–79%)
Epilepsy	Des (30–79%)
Hypoplasia of olfactory tract	Des (30–79%)
Intracranial cystic lesion	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Abnormality of neuronal migration	Uneori (5–29%)
Absent/small cerebellum	Uneori (5–29%)
Arrhinencephaly	Uneori (5–29%)
Cerebellar vermis hypoplasia	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Hypothalamic hamartoma	Uneori (5–29%)
Tremor	Uneori (5–29%)
Brain degeneration	Neînregistrat
Motor delay	Neînregistrat
Ventriculomegaly	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal development of end part of bone	Întotdeauna
Enlarged joints	Întotdeauna
Flat end part of bone	Întotdeauna
Funnel chest	Întotdeauna
Abnormality of the skeletal system	Foarte des (80–99%)
Delayed maturation of end part of long bone	Foarte des (80–99%)
Generalized decreased muscle tone	Foarte des (80–99%)
Multiple epiphyseal dysplasia	Foarte des (80–99%)
Low muscle tone	Des (30–79%)
Abnormal collarbone	Uneori (5–29%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Abnormal vertebral morphology	Rar (1–4%)
Pigeon chest	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Întotdeauna
Deeply set eye	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Absence of eyeballs	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Notched pupil	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Fundus hypopigmentation	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Bilateral cryptorchidism	Des (30–79%)
Hypospadias	Des (30–79%)
Abnormal fallopian tube morphology	Uneori (5–29%)
Absent kidney	Uneori (5–29%)
Absent/small kidney	Uneori (5–29%)
Short penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Întotdeauna
Abnormally shaped ears	Foarte des (80–99%)
Conductive deafness	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Hearing impairment	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Des (30–79%)
Abnormality of the heart	Uneori (5–29%)
Abnormal cardiac septum morphology	Neînregistrat
Abnormal pulmonary valve morphology	Neînregistrat
Pulmonary valve defects	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Des (30–79%)
Inguinal hernia	Des (30–79%)
Umbilical hernia	Des (30–79%)
Abnormal connection between rectum and vagina	Neînregistrat
Absent anus	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Des (30–79%)
Softening of voice box tissue	Des (30–79%)
Tracheal atresia	Des (30–79%)
Apnea	Uneori (5–29%)
Episodic tachypnea	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth delay	Des (30–79%)
Short stature	Des (30–79%)
Tall stature	Uneori (5–29%)
Growth delay as children	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Foarte des (80–99%)
Premature birth	Foarte des (80–99%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Joint pain	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Swelling caused by excess lymph fluid under skin	Des (30–79%)

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 KIF7 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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