Tunnused

Geeniga KIF7 seotud tunnused

kinesin family member 7

Inimese fenotüübi ontoloogia seostab geeniga KIF7 168 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

KIF7

Abnormality of head or neck

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of digit	Alati
Knock knees	Alati
Tapered finger	Alati
Duplication of big toe bone	Väga sageli (80–99%)
Duplication of thumb phalanx	Väga sageli (80–99%)
Extra little finger	Väga sageli (80–99%)
Extra thumb	Väga sageli (80–99%)
Extra toe attached near the little toe	Väga sageli (80–99%)
Preaxial foot polydactyly	Väga sageli (80–99%)
Spindle-shaped finger	Väga sageli (80–99%)
Curvature of finger	Sageli (30–79%)
Finger syndactyly	Sageli (30–79%)
Finger-like thumb	Sageli (30–79%)
Fused toes	Sageli (30–79%)
Preaxial polydactyly	Sageli (30–79%)
Short fingers or toes	Sageli (30–79%)
Webbed fingers or toes	Sageli (30–79%)
Cutaneous syndactyly	Mõnikord (5–29%)
Duplication of bones of the toes	Mõnikord (5–29%)
Extra finger	Mõnikord (5–29%)
Mesoaxial polydactyly	Mõnikord (5–29%)
Smaller or shorter than typical limbs	Mõnikord (5–29%)
Y-shaped central long bones of hand	Mõnikord (5–29%)
Curvature of little finger	Pole registreeritud
Notched outermost bone of the thumb	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Aplasia/Hypoplasia of the corpus callosum	Alati
Molar tooth sign on MRI	Alati
Absent septum pellucidum	Väga sageli (80–99%)
Agenesis of corpus callosum	Väga sageli (80–99%)
Global developmental delay	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Intellectual disability, severe	Väga sageli (80–99%)
Too much cerebrospinal fluid in the brain	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Anencephaly	Sageli (30–79%)
Ataxia	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Hypoplasia of olfactory tract	Sageli (30–79%)
Intracranial cystic lesion	Sageli (30–79%)
Underdevelopment of part of brain called corpus callosum	Sageli (30–79%)
Abnormality of neuronal migration	Mõnikord (5–29%)
Absent/small cerebellum	Mõnikord (5–29%)
Arrhinencephaly	Mõnikord (5–29%)
Cerebellar vermis hypoplasia	Mõnikord (5–29%)
Degeneration of cerebrum	Mõnikord (5–29%)
Hypothalamic hamartoma	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)
Brain degeneration	Pole registreeritud
Motor delay	Pole registreeritud
Ventriculomegaly	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal development of end part of bone	Alati
Enlarged joints	Alati
Flat end part of bone	Alati
Funnel chest	Alati
Abnormality of the skeletal system	Väga sageli (80–99%)
Delayed maturation of end part of long bone	Väga sageli (80–99%)
Generalized decreased muscle tone	Väga sageli (80–99%)
Multiple epiphyseal dysplasia	Väga sageli (80–99%)
Low muscle tone	Sageli (30–79%)
Abnormal collarbone	Mõnikord (5–29%)
Congenital diaphragmatic hernia	Mõnikord (5–29%)
Abnormal vertebral morphology	Harva (1–4%)
Pigeon chest	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Wide-set eyes	Alati
Deeply set eye	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Inward turning cross eyed	Sageli (30–79%)
Abnormally small eyeball	Mõnikord (5–29%)
Absence of eyeballs	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Notched pupil	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Fundus hypopigmentation	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Bilateral cryptorchidism	Sageli (30–79%)
Hypospadias	Sageli (30–79%)
Abnormal fallopian tube morphology	Mõnikord (5–29%)
Absent kidney	Mõnikord (5–29%)
Absent/small kidney	Mõnikord (5–29%)
Short penis	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Alati
Abnormally shaped ears	Väga sageli (80–99%)
Conductive deafness	Sageli (30–79%)
Ears rotated toward back of head	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiovascular system morphology	Sageli (30–79%)
Abnormality of the heart	Mõnikord (5–29%)
Abnormal cardiac septum morphology	Pole registreeritud
Abnormal pulmonary valve morphology	Pole registreeritud
Pulmonary valve defects	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Umbilical hernia	Sageli (30–79%)
Abnormal connection between rectum and vagina	Pole registreeritud
Absent anus	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the respiratory system	Sageli (30–79%)
Softening of voice box tissue	Sageli (30–79%)
Tracheal atresia	Sageli (30–79%)
Apnea	Mõnikord (5–29%)
Episodic tachypnea	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Growth delay	Sageli (30–79%)
Short stature	Sageli (30–79%)
Tall stature	Mõnikord (5–29%)
Growth delay as children	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Väga sageli (80–99%)
Premature birth	Väga sageli (80–99%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Joint pain	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Swelling caused by excess lymph fluid under skin	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga KIF7 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test