Kjennetegn

Kjennetegn knyttet til NFIX

nuclear factor I X

Human Phenotype Ontology knytter 196 kjennetegn til NFIX, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

NFIX

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Advanced bone age	Svært ofte (80–99 %)
Double-Jointed	Svært ofte (80–99 %)
Low muscle tone	Svært ofte (80–99 %)
Slender long bone	Svært ofte (80–99 %)
Abnormal formation of the hip	Ofte (30–79 %)
Atlantoaxial dislocation	Ofte (30–79 %)
Decreased hip abduction	Ofte (30–79 %)
Funnel chest	Ofte (30–79 %)
Hunched back	Ofte (30–79 %)
Increased susceptibility to fractures	Ofte (30–79 %)
Kyphoscoliosis	Ofte (30–79 %)
Low muscle tone in trunk	Ofte (30–79 %)
Low muscle tone, in neonatal onset	Ofte (30–79 %)
Low solidness and mass of the bones	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Thoracic kyphosis	Ofte (30–79 %)
Thoracic scoliosis	Ofte (30–79 %)
Osteoporosis	Noen ganger (5–29 %)
Recurrent fractures	Noen ganger (5–29 %)
Spasticity and rigidity of muscles	Noen ganger (5–29 %)
Hypoplasia of the odontoid process	Ikke registrert
Large sternal ossification centers	Ikke registrert
Short sternum	Ikke registrert

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Bulging eye	Alltid
Blue outer white part of eyeball	Svært ofte (80–99 %)
Astigmatism	Ofte (30–79 %)
Close sighted	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Farsightedness	Ofte (30–79 %)
Optic nerve hypoplasia	Ofte (30–79 %)
Severe near sightedness	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Deeply set eye	Noen ganger (5–29 %)
Glaucoma	Noen ganger (5–29 %)
Horizontal nystagmus	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)
Lazy eye	Noen ganger (5–29 %)
Optic atrophy	Noen ganger (5–29 %)
Optic disc hypoplasia	Noen ganger (5–29 %)
Optic disc pallor	Noen ganger (5–29 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Bowing of the long bones	Svært ofte (80–99 %)
Bunion	Ofte (30–79 %)
Coxa valga	Ofte (30–79 %)
Coxa vara	Ofte (30–79 %)
Curvature of little finger	Ofte (30–79 %)
Long fingers	Ofte (30–79 %)
Prominent fingertip pads	Ofte (30–79 %)
Slender finger	Ofte (30–79 %)
Curvature of digit	Noen ganger (5–29 %)
High-arched foot	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)
Partial hip dislocation	Noen ganger (5–29 %)
Bullet-shaped middle phalanges of the hand	Ikke registrert
Short outermost finger bone	Ikke registrert
Wide outermost end of long bone	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Cutis marmorata	Ofte (30–79 %)
Dysplastic aortic valve	Ofte (30–79 %)
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Extra heart beat	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Increased blood pressure in blood vessels of lungs	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)
High blood pressure	Ikke registrert

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Ofte (30–79 %)
Feeding difficulties in infancy	Ofte (30–79 %)
Acid reflux	Noen ganger (5–29 %)
Anteriorly placed anus	Noen ganger (5–29 %)
Constipation	Noen ganger (5–29 %)
Episodic vomiting	Noen ganger (5–29 %)
Pyloric stenosis	Noen ganger (5–29 %)
Umbilical hernia	Noen ganger (5–29 %)
Omphalocele	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Bilateral conductive hearing impairment	Ofte (30–79 %)
Cholesteatoma	Ofte (30–79 %)
Conductive deafness	Ofte (30–79 %)
Hearing impairment	Ofte (30–79 %)
Low-set ears	Ofte (30–79 %)
Overfolded ears	Ofte (30–79 %)
Ears rotated toward back of head	Noen ganger (5–29 %)
Small ears	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Decreased body weight	Alltid
General overgrowth	Alltid
Faltering weight	Svært ofte (80–99 %)
Prenatal growth deficiency	Svært ofte (80–99 %)
Growth delay	Ofte (30–79 %)
Short stature	Ofte (30–79 %)
Tall stature	Ofte (30–79 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Excessive hair growth	Svært ofte (80–99 %)
Thin skin	Svært ofte (80–99 %)
Beauty mark	Ofte (30–79 %)
Brittle hair	Ofte (30–79 %)
Excessive hairiness over body	Ofte (30–79 %)
Sparse hair	Ofte (30–79 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Obstructive lung disease	Svært ofte (80–99 %)
Noisy breathing	Ofte (30–79 %)
Softening of voice box tissue	Ofte (30–79 %)
Apnea	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Bilateral cryptorchidism	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Unilateral cryptorchidism	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Aspiration pneumonia	Ofte (30–79 %)
Recurrent aspiration pneumonia	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Bruising susceptibility	Ofte (30–79 %)

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Inverted nipples	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Early onset of puberty	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til NFIX og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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