Tunnused

Geeniga NFIX seotud tunnused

nuclear factor I X

Inimese fenotüübi ontoloogia seostab geeniga NFIX 196 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Anterior position of the premaxilla	Alati
Big calvaria	Alati
High forehead	Alati
Abnormal facial shape	Väga sageli (80–99%)
Abnormally small head	Väga sageli (80–99%)
Downward slanting of the opening between the eyelids	Väga sageli (80–99%)
Long face	Väga sageli (80–99%)
Midface retrusion	Väga sageli (80–99%)
Narrow face	Väga sageli (80–99%)
Nasal tip, upturned	Väga sageli (80–99%)
Prominent forehead	Väga sageli (80–99%)
Receding chin	Väga sageli (80–99%)
Big lower jaw	Sageli (30–79%)
Broad forehead	Sageli (30–79%)
Corners of eye widely separated	Sageli (30–79%)
Decreased size of tooth	Sageli (30–79%)
Depressed nasal bridge	Sageli (30–79%)
Drooling	Sageli (30–79%)
Drooping lower lip	Sageli (30–79%)
Early eruption of teeth	Sageli (30–79%)
Extra bones within cranial sutures	Sageli (30–79%)
Eye folds	Sageli (30–79%)
Frontal bossing	Sageli (30–79%)
Full lips	Sageli (30–79%)
Gum enlargement	Sageli (30–79%)
High palate	Sageli (30–79%)
Highly arched eyebrow	Sageli (30–79%)
Irregular teeth	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Long, narrow head	Sageli (30–79%)
Low hairline at back of neck	Sageli (30–79%)
Narrow mouth	Sageli (30–79%)
Open mouth	Sageli (30–79%)
Outward turned lips	Sageli (30–79%)
Oval face	Sageli (30–79%)
Prominent back of the head	Sageli (30–79%)
Prominent nose	Sageli (30–79%)
Protruding tongue	Sageli (30–79%)
Recurrent colds	Sageli (30–79%)
Short nose	Sageli (30–79%)
Short philtrum	Sageli (30–79%)
Small retruded chin	Sageli (30–79%)
Triangular face	Sageli (30–79%)
Asymmetry of the posterior head	Mõnikord (5–29%)
Blockage of the rear opening of the nasal cavity	Mõnikord (5–29%)
Cleft palate	Mõnikord (5–29%)
Deformity of the skull	Mõnikord (5–29%)
Facial asymmetry	Mõnikord (5–29%)
Narrowing of the rear opening of the nasal cavity	Mõnikord (5–29%)
Pointed chin	Mõnikord (5–29%)
Scaphocephaly	Mõnikord (5–29%)
Sloping forehead	Mõnikord (5–29%)
Underdeveloped tissue around nostril	Mõnikord (5–29%)
Upward slanting of the opening between the eyelids	Mõnikord (5–29%)
Decreased depth of eye sockets	Pole registreeritud
Monobrow	Pole registreeritud
Retraction of the tongue	Pole registreeritud
Short mandibular rami	Pole registreeritud
Thick eyebrow	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Anxiety	Alati
Delayed speech and language development	Alati
Global developmental delay	Alati
Intellectual disability	Alati
IQ between 34 and 49	Alati
Absent septum pellucidum	Sageli (30–79%)
Absent speech development	Sageli (30–79%)
Autism spectrum disorder	Sageli (30–79%)
Brisk reflexes	Sageli (30–79%)
Delayed ability to walk	Sageli (30–79%)
Fewer and broader ridges in brain	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Obstructive sleep apnea	Sageli (30–79%)
Too much cerebrospinal fluid in the brain	Sageli (30–79%)
Underdevelopment of part of brain called corpus callosum	Sageli (30–79%)
Ventriculomegaly	Sageli (30–79%)
Cervical cord compression	Mõnikord (5–29%)
Degeneration of cerebrum	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Episodic ataxia	Mõnikord (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Mõnikord (5–29%)
Intellectual disability, mild	Mõnikord (5–29%)
Intellectual disability, severe	Mõnikord (5–29%)
Irritability	Mõnikord (5–29%)
Lateral ventricle dilatation	Mõnikord (5–29%)
Migraine	Mõnikord (5–29%)
More active than typical	Mõnikord (5–29%)
Self-injurious behavior	Mõnikord (5–29%)
Small brainstem	Mõnikord (5–29%)
Small cerebellum	Mõnikord (5–29%)
Agenesis of corpus callosum	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Advanced bone age	Väga sageli (80–99%)
Double-Jointed	Väga sageli (80–99%)
Low muscle tone	Väga sageli (80–99%)
Slender long bone	Väga sageli (80–99%)
Abnormal formation of the hip	Sageli (30–79%)
Atlantoaxial dislocation	Sageli (30–79%)
Decreased hip abduction	Sageli (30–79%)
Funnel chest	Sageli (30–79%)
Hunched back	Sageli (30–79%)
Increased susceptibility to fractures	Sageli (30–79%)
Kyphoscoliosis	Sageli (30–79%)
Low muscle tone in trunk	Sageli (30–79%)
Low muscle tone, in neonatal onset	Sageli (30–79%)
Low solidness and mass of the bones	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Thoracic kyphosis	Sageli (30–79%)
Thoracic scoliosis	Sageli (30–79%)
Osteoporosis	Mõnikord (5–29%)
Recurrent fractures	Mõnikord (5–29%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)
Hypoplasia of the odontoid process	Pole registreeritud
Large sternal ossification centers	Pole registreeritud
Short sternum	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Alati
Blue outer white part of eyeball	Väga sageli (80–99%)
Astigmatism	Sageli (30–79%)
Close sighted	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Farsightedness	Sageli (30–79%)
Optic nerve hypoplasia	Sageli (30–79%)
Severe near sightedness	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Deeply set eye	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Horizontal nystagmus	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Optic disc hypoplasia	Mõnikord (5–29%)
Optic disc pallor	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Bowing of the long bones	Väga sageli (80–99%)
Bunion	Sageli (30–79%)
Coxa valga	Sageli (30–79%)
Coxa vara	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Long fingers	Sageli (30–79%)
Prominent fingertip pads	Sageli (30–79%)
Slender finger	Sageli (30–79%)
Curvature of digit	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Partial hip dislocation	Mõnikord (5–29%)
Bullet-shaped middle phalanges of the hand	Pole registreeritud
Short outermost finger bone	Pole registreeritud
Wide outermost end of long bone	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Cutis marmorata	Sageli (30–79%)
Dysplastic aortic valve	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Extra heart beat	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Increased blood pressure in blood vessels of lungs	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
High blood pressure	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Acid reflux	Mõnikord (5–29%)
Anteriorly placed anus	Mõnikord (5–29%)
Constipation	Mõnikord (5–29%)
Episodic vomiting	Mõnikord (5–29%)
Pyloric stenosis	Mõnikord (5–29%)
Umbilical hernia	Mõnikord (5–29%)
Omphalocele	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Bilateral conductive hearing impairment	Sageli (30–79%)
Cholesteatoma	Sageli (30–79%)
Conductive deafness	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Low-set ears	Sageli (30–79%)
Overfolded ears	Sageli (30–79%)
Ears rotated toward back of head	Mõnikord (5–29%)
Small ears	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased body weight	Alati
General overgrowth	Alati
Faltering weight	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Growth delay	Sageli (30–79%)
Short stature	Sageli (30–79%)
Tall stature	Sageli (30–79%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hair growth	Väga sageli (80–99%)
Thin skin	Väga sageli (80–99%)
Beauty mark	Sageli (30–79%)
Brittle hair	Sageli (30–79%)
Excessive hairiness over body	Sageli (30–79%)
Sparse hair	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Obstructive lung disease	Väga sageli (80–99%)
Noisy breathing	Sageli (30–79%)
Softening of voice box tissue	Sageli (30–79%)
Apnea	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Bilateral cryptorchidism	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Unilateral cryptorchidism	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Aspiration pneumonia	Sageli (30–79%)
Recurrent aspiration pneumonia	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bruising susceptibility	Sageli (30–79%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Inverted nipples	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Mõnikord (5–29%)

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 NFIX seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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